ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499231080
Gene: PRPH2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000313.2:p.Phe171Cys
CA364137391
NM_000322.5:c.512T>G