ClinGen Allele Registry
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Canonical Allele Identifier:
PA226323
Gene: PRPH2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000085028
RCV001161271
RCV001250360
RCV001438086
ClinVar Variation:
98715
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000313.2:p.Ser289Leu
CA226322
NM_000322.5:c.866C>T