Canonical Allele Identifier: CA2136398916
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50857005A= , CM000676.2:g.50857005A= GRCh38
NC_000014.8:g.51323723A= , CM000676.1:g.51323723A= GRCh37
NC_000014.7:g.50393473A= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_943848.1:n.282+1093T=
XR_943848.2:n.643+1093T=