Canonical Allele Identifier: PA095638
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99304
ClinVar RCV Id: RCV000085657 RCV000177510 RCV001002826 RCV001074286 RCV001535669 RCV004529890 RCV003235039
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Asp1532Asn
CA227219
NM_000350.3:c.4594G>A