Canonical Allele Identifier: CA1804794048
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.97269527C= , CM000670.2:g.97269527C= GRCh38
NC_000008.10:g.98281755C= , CM000670.1:g.98281755C= GRCh37
NC_000008.9:g.98350931C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_125390.1:n.471+149543G=