Canonical Allele Identifier: CA1751305279
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148560896C= , CM000669.2:g.148560896C= GRCh38
NC_000007.13:g.148257988C= , CM000669.1:g.148257988C= GRCh37
NC_000007.12:g.147888921C= NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_928099.1:n.300+7204G=
XR_928100.1:n.433+7204G=