Canonical Allele Identifier: PA095381
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99448
ClinVar RCV Id: RCV000085807 RCV000408534 RCV000505080 RCV001074412 RCV004528786 RCV004017398
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Arg2107His
CA227389
NM_000350.3:c.6320G>A
CA2499306151
NM_000350.3:c.[6320G>A;3322C>T]