Canonical Allele Identifier: PA095857
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99196
ClinVar RCV Id: RCV000085545 RCV000408496 RCV003324507 RCV004529887
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Glu1022Lys
CA227078
NM_000350.3:c.3064G>A