Canonical Allele Identifier: PA096334
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 7892
ClinVar RCV Id: RCV000008346 RCV000085773 RCV000259062 RCV000408598 RCV000778995 RCV000787515 RCV001073250
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Leu1970Phe
CA119133
NM_000350.3:c.5908C>T