ClinGen Allele Registry
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Canonical Allele Identifier:
PA092355
Gene: RPE65
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
104744
ClinVar RCV:
RCV000085182
RCV003764790
ClinVar Variation:
98854
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000320.1:p.Tyr79His
CA226528
NM_000329.3:c.235T>C