Canonical Allele Identifier: PA095717
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99288
ClinVar RCV Id: RCV000085641 RCV000177442 RCV000210300 RCV000779003 RCV000787763 RCV002287365 RCV001542643
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Cys1490Tyr
CA227198
NM_000350.3:c.4469G>A