ClinGen Allele Registry
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Canonical Allele Identifier:
PA2499231075
Gene: PRPH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1175280
ClinVar RCV Id:
RCV001530340
RCV001873758
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000313.2:p.Lys153Glu
CA16609676
NM_000322.5:c.457A>G