Canonical Allele Identifier: PA096551
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99283
ClinVar RCV Id: RCV000085636 RCV000408536 RCV001002829 RCV001198562 RCV001074852 RCV002498456
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Pro1486Leu
CA227192
NM_000350.3:c.4457C>T