Canonical Allele Identifier: CA1818149121
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.126999233C= , CM000670.2:g.126999233C= GRCh38
NC_000008.10:g.128011478C= , CM000670.1:g.128011478C= GRCh37
NC_000008.9:g.128080660C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001746076.2:n.1301-7322C=