Canonical Allele Identifier: PA095272
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99330
ClinVar RCV Id: RCV000085683 RCV000210311 RCV000505114 RCV000408519 RCV000787504 RCV002505017
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Arg1640Trp
CA227253
NM_000350.3:c.4918C>T