Canonical Allele Identifier: CA2170931664
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38614876C= , CM000677.2:g.38614876C= GRCh38
NC_000015.9:g.38907077C= , CM000677.1:g.38907077C= GRCh37
NC_000015.8:g.36694369C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001751736.1:n.281+2421C=