Canonical Allele Identifier: CA2470713731
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.15311440C= , CM000686.2:g.15311440C= GRCh38
NC_000024.9:g.17423320C= , CM000686.1:g.17423320C= GRCh37
NC_000024.8:g.15932714C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001756089.1:n.309+37229G=