ClinGen Allele Registry
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Canonical Allele Identifier:
PA645510734
Gene: RPE65
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000504723
RCV001250673
RCV001377674
RCV001724032
RCV001834621
RCV002496962
RCV004527379
ClinVar Variation:
437985
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000320.1:p.Pro25Leu
CA902628
NM_000329.3:c.74C>T