ClinGen Allele Registry
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Canonical Allele Identifier:
PA226278
Gene: PRPH2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000085003
RCV001052017
RCV001074371
RCV001250308
RCV001542667
ClinVar Variation:
98692
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000313.2:p.Cys213Tyr
CA226277
NM_000322.5:c.638G>A