ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA762732326
Gene:
Linked Data
dbSNP Id:
rs1274330443
MyVariant Identifiers:
chr2:g.195871880A>G (hg19)
chr2:g.195007156A>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.195007156A>G , CM000664.2:g.195007156A>G
GRCh38
NC_000002.11:g.195871880A>G , CM000664.1:g.195871880A>G
GRCh37
NC_000002.10:g.195580125A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001739836.1:n.553+52279T>C
Search 100 bp 5'
Search 100 bp 3'