Canonical Allele Identifier: CA1580179050
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.126002784A= , CM000667.2:g.126002784A= GRCh38
NC_000005.9:g.125338477A= , CM000667.1:g.125338477A= GRCh37
NC_000005.8:g.125366376A= NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_948737.1:n.565+3556T=
XR_948738.1:n.497+5756T=