Canonical Allele Identifier: PA2499231603
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1016200
ClinVar RCV Id: RCV001315173 RCV002543667
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Val1378Met
CA957702
NM_000350.3:c.4132G>A