Canonical Allele Identifier: PA2741816230
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 3006375
ClinVar RCV Id: RCV003866526
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Cys764Phe
CA341277839
NM_000350.3:c.2291G>T