ClinGen Allele Registry
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Canonical Allele Identifier:
PA2499231073
Gene: PRPH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1175246
ClinVar RCV Id:
RCV001530287
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000313.2:p.Lys139del
CA2499218285
NM_000322.5:c.415_417del