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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2693353642
Gene: ARX
HGNC
NCBI
Linked Data
gnomAD v4:
X-25010194-C-CAAAA
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.25010195_25010196insAAAA , CM000685.2:g.25010195_25010196insAAAA
GRCh38
NC_000023.10:g.25028312_25028313insAAAA , CM000685.1:g.25028312_25028313insAAAA
GRCh37
NC_000023.9:g.24938233_24938234insAAAA
NCBI36
NG_008281.1:g.10754_10755insTTTT
Transcript Alleles
HGVS
Amino-acid change
ENST00000379044.5:c.1119+65_1119+66insTTTT
MANE Select
ENSP00000368332.4:n.1119+65_1119+66insTTT...
ENST00000379044.4:c.1119+65_1119+66insTTTT
ENSP00000368332.4:n.1119+65_1119+66insTTT...
NM_139058.2:c.1119+65_1119+66insTTTT
NP_620689.1:n.1119+65_1119+66insTTTT
NM_139058.3:c.1119+65_1119+66insTTTT
MANE Select
NP_620689.1:n.1119+65_1119+66insTTTT
Search 100 bp 5'
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