Canonical Allele Identifier: PA095247
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99278
ClinVar RCV Id: RCV000085631 RCV000408447 RCV000779005 RCV001073587 RCV002247490 RCV003324511
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Arg1443His
CA227185
NM_000350.3:c.4328G>A