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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:
CA1139248867
Gene: XGY1
HGNC
NCBI
Linked Data
dbSNP Id:
rs2053299134
gnomAD v3:
Y-12465419-G-T
gnomAD v4:
Y-12465419-G-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.12465419G>T , CM000686.2:g.12465419G>T
GRCh38
NC_000024.9:g.14577219G>T , CM000686.1:g.14577219G>T
GRCh37
NC_000024.8:g.13087227G>T
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000381172.3:n.184+3024C>A
Search 100 bp 5'
Search 100 bp 3'