Canonical Allele Identifier: PA232816
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 143076
ClinVar RCV Id: RCV000132592 RCV000986347 RCV001073482 RCV001542554
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Arg2040Gln
CA232815
NM_000350.3:c.6119G>A