Canonical Allele Identifier: PA095179
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 92867
ClinVar RCV Id: RCV000078665 RCV000150052 RCV001002834 RCV001195927 RCV001074904 RCV002490678 RCV004537308
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Arg1108Cys
CA220683
NM_000350.3:c.3322C>T