Canonical Allele Identifier: PA645440804
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 298231
ClinVar RCV Id: RCV000283357 RCV000289750 RCV000342279 RCV000393464 RCV001101749 RCV001812786
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Pro1649Ser
CA10611704
NM_000350.3:c.4945C>T