ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA226251
Gene: PRPH2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000313.2:p.Gln178Arg
CA226250
NM_000322.5:c.533A>G