Canonical Allele Identifier: PA095227
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99224
ClinVar RCV Id: RCV000085576 RCV000408578 RCV000763045 RCV001075726 RCV001199211
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Arg1129Leu
CA227116
NM_000350.3:c.3386G>T