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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:
CA2738476269
Gene: ARX
HGNC
NCBI
Linked Data
dbSNP Id:
rs2147321927
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.25010167_25010170del , CM000685.2:g.25010167_25010170del
GRCh38
NC_000023.10:g.25028284_25028287del , CM000685.1:g.25028284_25028287del
GRCh37
NC_000023.9:g.24938205_24938208del
NCBI36
NG_008281.1:g.10780_10783del
Transcript Alleles
HGVS
Amino-acid change
ENST00000379044.5:c.1119+91_1119+94del
MANE Select
ENSP00000368332.4:n.1119+91_1119+94del
ENST00000379044.4:c.1119+91_1119+94del
ENSP00000368332.4:n.1119+91_1119+94del
NM_139058.2:c.1119+91_1119+94del
NP_620689.1:n.1119+91_1119+94del
NM_139058.3:c.1119+91_1119+94del
MANE Select
NP_620689.1:n.1119+91_1119+94del
Search 100 bp 5'
Search 100 bp 3'