Canonical Allele Identifier: PA095049
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99321
ClinVar RCV Id: RCV000085674 RCV000408465 RCV001002825 RCV001074177 RCV001808326 RCV001257846 RCV003387758
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Ala1598Asp
CA227239
NM_000350.3:c.4793C>A