ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA228914
Gene: RP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006260.1:p.Thr752Met
CA228913
NM_006269.2:c.2255C>T