Canonical Allele Identifier: CA2391130626

Gene:

Linked Data

• dbSNP Id: rs1985726564
• gnomAD v4: 21-43168945-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43168945T>C , CM000683.2:g.43168945T>C	GRCh38
NG_009823.1:g.4915T>C

Transcript Alleles

HGVS	Amino-acid Change
XR_001755073.1:n.647+2092A>G