ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA092301
Gene: RPE65
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000085198
RCV001854498
ClinVar Variation:
98868
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000320.1:p.Tyr144Asp
CA226550
NM_000329.3:c.430T>G