ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139673380
Gene: PRPH2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001268764
ClinVar Variation:
987409
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000313.2:p.Arg172Pro
CA364137388
NM_000322.5:c.515G>C