Canonical Allele Identifier: CA1818149422
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.126999495C= , CM000670.2:g.126999495C= GRCh38
NC_000008.10:g.128011740C= , CM000670.1:g.128011740C= GRCh37
NC_000008.9:g.128080922C= NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001746076.2:n.1301-7060C=