Canonical Allele Identifier: CA1817442048
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.125478778C= , CM000670.2:g.125478778C= GRCh38
NC_000008.10:g.126491020C= , CM000670.1:g.126491020C= GRCh37
NC_000008.9:g.126560202C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_928628.1:n.256+5464C=