Canonical Allele Identifier: CA2185570232
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.69755848C= , CM000677.2:g.69755848C= GRCh38
NC_000015.9:g.70048187C= , CM000677.1:g.70048187C= GRCh37
NC_000015.8:g.67835241C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001751592.2:n.86-308C=