Canonical Allele Identifier: CA2969346381
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.126999698A>C , CM000670.2:g.126999698A>C GRCh38
NC_000008.10:g.128011943A>C , CM000670.1:g.128011943A>C GRCh37
NC_000008.9:g.128081125A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001746076.2:n.1301-6857A>C