ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA576613571
Gene:
Linked Data
dbSNP Id:
rs1184165315
gnomAD v2:
7-97017860-T-C
gnomAD v3:
7-97388548-T-C
gnomAD v4:
7-97388548-T-C
MyVariant Identifiers:
chr7:g.97017860T>C (hg19)
chr7:g.97388548T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.97388548T>C , CM000669.2:g.97388548T>C
GRCh38
NC_000007.13:g.97017860T>C , CM000669.1:g.97017860T>C
GRCh37
NC_000007.12:g.96855796T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001745293.1:n.127-59901A>G
Search 100 bp 5'
Search 100 bp 3'