Canonical Allele Identifier: PA645441438
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 298222
ClinVar RCV Id: RCV000264727 RCV000280073 RCV000319805 RCV000374572 RCV001099678 RCV001380600
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Arg2139Pro
CA10611614
NM_000350.3:c.6416G>C