Canonical Allele Identifier: PA095425
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99471
ClinVar RCV Id: RCV000085832 RCV000504919 RCV002470767 RCV002498460
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Arg220Cys
CA227420
NM_000350.3:c.658C>T