Canonical Allele Identifier: PA645441001
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 377406
ClinVar RCV Id: RCV000421632 RCV002289547 RCV002480281 RCV003224874
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Tyr1858Asn
CA957222
NM_000350.3:c.5572T>A