Canonical Allele Identifier: CA2170931665
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38614877C= , CM000677.2:g.38614877C= GRCh38
NC_000015.9:g.38907078C= , CM000677.1:g.38907078C= GRCh37
NC_000015.8:g.36694370C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001751736.1:n.281+2422C=