Canonical Allele Identifier: CA2135545205
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49067763C= , CM000676.2:g.49067763C= GRCh38
NC_000014.8:g.49534481C= , CM000676.1:g.49534481C= GRCh37
NC_000014.7:g.48604231C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_943837.1:n.222+2029G=
XR_943837.2:n.345+2029G=