Canonical Allele Identifier: CA2170931649
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38614848C= , CM000677.2:g.38614848C= GRCh38
NC_000015.9:g.38907049C= , CM000677.1:g.38907049C= GRCh37
NC_000015.8:g.36694341C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001751736.1:n.281+2393C=