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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:
CA2420207977
Gene: ARX
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.25010167_25010168delinsAC , CM000685.2:g.25010167_25010168delinsAC
GRCh38
NC_000023.10:g.25028284_25028285delinsAC , CM000685.1:g.25028284_25028285delinsAC
GRCh37
NC_000023.9:g.24938205_24938206delinsAC
NCBI36
NG_008281.1:g.10781_10782delinsGT
Transcript Alleles
HGVS
Amino-acid change
ENST00000379044.5:c.1119+92_1119+93delinsGT
MANE Select
ENSP00000368332.4:n.1119+92_1119+93delinsGT
ENST00000379044.4:c.1119+92_1119+93delinsGT
ENSP00000368332.4:n.1119+92_1119+93delinsGT
NM_139058.2:c.1119+92_1119+93delinsGT
NP_620689.1:n.1119+92_1119+93delinsGT
NM_139058.3:c.1119+92_1119+93delinsGT
MANE Select
NP_620689.1:n.1119+92_1119+93delinsGT
Search 100 bp 5'
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