ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499231450
Gene: ABCA4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1020258
ClinVar RCV Id:
RCV001319810
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000341.2:p.Asp2065Asn
CA341278308
NM_000350.3:c.6193G>A