Canonical Allele Identifier: CA1818161655
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.127012470C= , CM000670.2:g.127012470C= GRCh38
NC_000008.10:g.128024715C= , CM000670.1:g.128024715C= GRCh37
NC_000008.9:g.128093897C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001746076.2:n.1364+5852C=