Canonical Allele Identifier: PA2499231580
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1052322
ClinVar RCV Id: RCV001360480
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Ser2072Arg
CA341278259
NM_000350.3:c.6216T>G
CA341278260
NM_000350.3:c.6216T>A
CA341278266
NM_000350.3:c.6214A>C