ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741895526
Gene: RPN2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002942.2:p.Thr73Ile
CA408840445
NM_002951.5:c.218C>T