Canonical Allele Identifier: PA645441412
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 298223
ClinVar RCV Id: RCV000294673 RCV000315923 RCV000349548 RCV000389153 RCV001099679 RCV001424033 RCV003888704
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Val2114Met
CA956899
NM_000350.3:c.6340G>A