ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA226332
Gene: PRPH2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000313.2:p.Pro313Leu
CA226331
NM_000322.5:c.938C>T