ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA832742507
Gene:
Linked Data
dbSNP Id:
rs1325871988
gnomAD v3:
7-124306371-C-T
gnomAD v4:
7-124306371-C-T
MyVariant Identifiers:
chr7:g.123946425C>T (hg19)
chr7:g.124306371C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.124306371C>T , CM000669.2:g.124306371C>T
GRCh38
NC_000007.13:g.123946425C>T , CM000669.1:g.123946425C>T
GRCh37
NC_000007.12:g.123733661C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_002956584.1:n.73-107C>T
Search 100 bp 5'
Search 100 bp 3'