ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA226247
Gene: PRPH2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000084980
ClinVar Variation:
98675
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000313.2:p.Arg172Gly
CA226246
NM_000322.5:c.514C>G