ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645510131
Gene: PRPH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
437967
ClinVar RCV Id:
RCV000504883
RCV001003140
RCV002524400
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000313.2:p.Cys222Arg
CA364135451
NM_000322.5:c.664T>C