ClinGen Allele Registry
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Canonical Allele Identifier:
PA148466
Gene: RP1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000081373
RCV000325419
RCV001519928
RCV001795144
RCV003888441
ClinVar Variation:
95354
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006260.1:p.Ser1691Pro
CA148465
NM_006269.2:c.5071T>C