Canonical Allele Identifier: CA1817441640
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.125478299C= , CM000670.2:g.125478299C= GRCh38
NC_000008.10:g.126490541C= , CM000670.1:g.126490541C= GRCh37
NC_000008.9:g.126559723C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_928628.1:n.256+4985C=