Canonical Allele Identifier: CA2185570133
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.69755643C= , CM000677.2:g.69755643C= GRCh38
NC_000015.9:g.70047982C= , CM000677.1:g.70047982C= GRCh37
NC_000015.8:g.67835036C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001751592.2:n.86-513C=