Canonical Allele Identifier: CA1596629128
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.162656554C= , CM000667.2:g.162656554C= GRCh38
NC_000005.9:g.162083560C= , CM000667.1:g.162083560C= GRCh37
NC_000005.8:g.162016138C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001742958.1:n.418+3548G=