Canonical Allele Identifier: PA095515
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99108
ClinVar RCV Id: RCV000085452 RCV000408546 RCV000763047 RCV001074668
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Arg653Cys
CA226965
NM_000350.3:c.1957C>T