Canonical Allele Identifier: CA2654731369

Gene:

Linked Data

• gnomAD v4: 21-43168957-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43168957C>A , CM000683.2:g.43168957C>A	GRCh38
NG_009823.1:g.4927C>A

Transcript Alleles

HGVS	Amino-acid Change
XR_001755073.1:n.647+2080G>T