ClinGen Allele Registry
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Canonical Allele Identifier:
PA645472246
Gene: PRPH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
425378
ClinVar RCV Id:
RCV001199524
RCV001199528
RCV000487688
RCV002526003
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000313.2:p.Ser218Leu
CA16621838
NM_000322.5:c.653C>T