ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA148466
Gene: RP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006260.1:p.Ser1691Pro
CA148465
NM_006269.2:c.5071T>C