Canonical Allele Identifier: PA645440800
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 298232
ClinVar RCV Id: RCV000301076 RCV000340669 RCV000353628 RCV000393458 RCV000486564 RCV001075649 RCV001101750
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Ser1642Ile
CA957429
NM_000350.3:c.4925G>T