Canonical Allele Identifier: CA2112050728
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.94853115C= , CM000675.2:g.94853115C= GRCh38
NC_000013.10:g.95505369C= , CM000675.1:g.95505369C= GRCh37
NC_000013.9:g.94303370C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_110754.1:n.257-52349C=