Canonical Allele Identifier: PA095886
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99211
ClinVar RCV Id: RCV000085562 RCV001075833 RCV001199228 RCV002498455 RCV001808323 RCV001814057 RCV002466427
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Glu1087Lys
CA227097
NM_000350.3:c.3259G>A