Canonical Allele Identifier: CA1740470191
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.124306504A= , CM000669.2:g.124306504A= GRCh38
NC_000007.13:g.123946558A= , CM000669.1:g.123946558A= GRCh37
NC_000007.12:g.123733794A= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_002956584.1:n.99A=