ClinGen Allele Registry
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Canonical Allele Identifier:
PA092085
Gene: RPE65
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
104763
ClinVar RCV:
RCV000085203
RCV000678617
RCV000778252
RCV001245153
RCV001250708
RCV001831894
RCV004527316
ClinVar Variation:
98873
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000320.1:p.Asp167Tyr
CA226557
NM_000329.3:c.499G>T