Canonical Allele Identifier: CA1740470130
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.124306371C= , CM000669.2:g.124306371C= GRCh38
NC_000007.13:g.123946425C= , CM000669.1:g.123946425C= GRCh37
NC_000007.12:g.123733661C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_002956584.1:n.73-107C=