ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741930955
Gene: RP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2816853
ClinVar RCV Id:
RCV003710983
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006260.1:p.Thr765Pro
CA370993351
NM_006269.2:c.2293A>C