ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741861571
Gene: RPN2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001311234.1:p.Tyr607His
CA408851439
NM_001324305.2:c.1819T>C