Canonical Allele Identifier: PA096948
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99343
ClinVar RCV Id: RCV000085696 RCV001073371 RCV002255285 RCV004528785 RCV002470765
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Val1693Ile
CA227271
NM_000350.3:c.5077G>A