Canonical Allele Identifier: CA2391130613
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43168888C= , CM000683.2:g.43168888C= GRCh38
NG_009823.1:g.4858C=

Transcript Alleles

HGVS Amino-acid Change
XR_001755073.1:n.647+2149G=