Canonical Allele Identifier: CA1800979847
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.88981187C= , CM000670.2:g.88981187C= GRCh38
NC_000008.10:g.89993416C= , CM000670.1:g.89993416C= GRCh37
NC_000008.9:g.90062532C= NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_002956667.1:n.179-99126G=