ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825145798
Gene: ABCA4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2813929
ClinVar RCV Id:
RCV003680689
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000341.2:p.Pro629Ala
CA341279323
NM_000350.3:c.1885C>G