ClinGen Allele Registry
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Canonical Allele Identifier:
PA2499231106
Gene: PRPH2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001386139
RCV001530368
RCV003888085
ClinVar Variation:
1073211
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000313.2:p.Pro216Arg
CA364135534
NM_000322.5:c.647C>G