Canonical Allele Identifier: PA228874
Gene: PDE6A HGNC NCBI

Linked Data

ClinVar Variation Id: 100556
ClinVar RCV Id: RCV000086933 RCV001002090 RCV001157994
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000431.2:p.Leu516Val
CA228873
NM_000440.3:c.1546C>G