ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139701950
Gene: RP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
957353
ClinVar RCV Id:
RCV001230316
RCV004032699
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006260.1:p.Leu773Ile
CA177237100
NM_006269.2:c.2317C>A