Canonical Allele Identifier: PA095952
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99052
ClinVar RCV Id: RCV000085395 RCV000622340 RCV001002844 RCV001074274 RCV001102041 RCV001808322 RCV003128228 RCV003317086
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Glu471Lys
CA226892
NM_000350.3:c.1411G>A