ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA71005772
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr3:g.18725912C>G
GRCh37
chr3:g.18767404C>G
Linked Data - Sequence & Population
gnomAD v3:
3:18725912 C / G
gnomAD v4:
chr3-18725912-C-G
Linked Data - NCBI & NCI
dbSNP:
4256159
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.18725912C>G , CM000665.2:g.18725912C>G
GRCh38
NC_000003.11:g.18767404C>G , CM000665.1:g.18767404C>G
GRCh37
NC_000003.10:g.18742408C>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001740423.1:n.60-20042C>G
Search 100 bp 5'
Search 100 bp 3'