Canonical Allele Identifier: PA645439873
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 298258
ClinVar RCV Id: RCV000286324 RCV000321513 RCV000378419 RCV001073691 RCV001303441 RCV001590914 RCV003323503
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Arg508Cys
CA958507
NM_000350.3:c.1522C>T