ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA13020848
Gene:
Linked Data
dbSNP Id:
rs1231463
gnomAD v2:
9-132339129-C-G
gnomAD v3:
9-129576850-C-G
gnomAD v4:
9-129576850-C-G
MyVariant Identifiers:
chr9:g.132339129C>G (hg19)
chr9:g.129576850C>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.129576850C>G , CM000671.2:g.129576850C>G
GRCh38
NC_000009.11:g.132339129C>G , CM000671.1:g.132339129C>G
GRCh37
NC_000009.10:g.131378950C>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_930390.1:n.182+1252C>G
Search 100 bp 5'
Search 100 bp 3'