Canonical Allele Identifier: PA095350
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99438
ClinVar RCV Id: RCV000085797 RCV000402409 RCV000504630 RCV001004998 RCV000787519 RCV001770079
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Arg2077Trp
CA227380
NM_000350.3:c.6229C>T