Canonical Allele Identifier: PA096430
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99067
ClinVar RCV Id: RCV000085410 RCV000504750 RCV000408513 RCV000505133 RCV000787481 RCV001002385 RCV000787482 RCV001196126 RCV004528784
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Leu541Pro
CA226911
NM_000350.3:c.1622T>C