Canonical Allele Identifier: CA2391130610
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43168884C= , CM000683.2:g.43168884C= GRCh38
NG_009823.1:g.4854C=

Transcript Alleles

HGVS Amino-acid Change
XR_001755073.1:n.647+2153G=