Canonical Allele Identifier: PA096022
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 7888
ClinVar RCV Id: RCV000008339 RCV000008340 RCV000008341 RCV000078670 RCV000273328 RCV000504952 RCV000505149 RCV000624210 RCV000678513 RCV000787514 RCV001254602 RCV001807001 RCV001542557 RCV001731281 RCV002247269 RCV003324710
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Gly1961Glu
CA119132
NM_000350.3:c.5882G>A
CA913203331
NM_000350.3:c.[5882G>A;5512C>G]