Canonical Allele Identifier: PA095523
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99162
ClinVar RCV Id: RCV000085510 RCV001074959 RCV003330430 RCV004529885
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Arg943Trp
CA227037
NM_000350.3:c.2827C>T