ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741816227
Gene: ABCA4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2664260
ClinVar RCV Id:
RCV003445395
RCV003553939
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000341.2:p.Phe754Ser
CA341277903
NM_000350.3:c.2261T>C