Canonical Allele Identifier: CA2018036618
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48892795G= , CM000675.2:g.48892795G= GRCh38
NC_000013.10:g.49466931G= , CM000675.1:g.49466931G= GRCh37
NC_000013.9:g.48364932G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001749987.1:n.221-4249G=