ClinGen Allele Registry
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Canonical Allele Identifier:
PA241333
Gene: PRPH2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000175581
RCV001250337
RCV001463523
RCV003389460
ClinVar Variation:
195062
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000313.2:p.Glu242Gly
CA241332
NM_000322.5:c.725A>G