Canonical Allele Identifier: PA095039
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 7894
ClinVar RCV Id: RCV000008348 RCV000008350 RCV000085549 RCV000505109 RCV000763046 RCV000787493 RCV000787494 RCV000787495 RCV000778259 RCV001196125 RCV001000014
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Ala1038Val
CA031062
NM_000350.3:c.[3113C>T;1622T>C]
CA119135
NM_000350.3:c.3113C>T