Canonical Allele Identifier: PA645439875
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 377402
ClinVar RCV Id: RCV000429156 RCV000779006 RCV001074731 RCV002250625 RCV002272229
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Arg511Cys
CA958502
NM_000350.3:c.1531C>T
CA916079392
NM_000350.3:c.[1531C>T;872C>T]