Canonical Allele Identifier: CA1800980057
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.88981311C= , CM000670.2:g.88981311C= GRCh38
NC_000008.10:g.89993540C= , CM000670.1:g.89993540C= GRCh37
NC_000008.9:g.90062656C= NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_002956667.1:n.179-99250G=