ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499273502
Gene: RP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006260.1:p.Ser107Tyr
CA4751117
NM_006269.2:c.320C>A