ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA096591
Gene: ABCA4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
99112
ClinVar RCV Id:
RCV000085456
RCV000408449
RCV001074756
RCV000779008
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000341.2:p.Pro68Arg
CA226971
NM_000350.3:c.203C>G