Canonical Allele Identifier: PA095304
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99398
ClinVar RCV Id: RCV000085752 RCV000408593 RCV000623966 RCV000778998 RCV000787764 RCV000787513 RCV001075015 RCV001196150 RCV002470766
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Arg1898His
CA227333
NM_000350.3:c.5693G>A
CA916079393
NM_000350.3:c.[5693G>A;1411G>A]