Canonical Allele Identifier: CA1817441717
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.125478360C= , CM000670.2:g.125478360C= GRCh38
NC_000008.10:g.126490602C= , CM000670.1:g.126490602C= GRCh37
NC_000008.9:g.126559784C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_928628.1:n.256+5046C=