Canonical Allele Identifier: PA095360
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99447
ClinVar RCV Id: RCV000085806 RCV000408484 RCV001075529 RCV004017397
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Arg2106Cys
CA227388
NM_000350.3:c.6316C>T