ClinGen Allele Registry
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Canonical Allele Identifier:
PA3066653584
Gene: PNPT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149100.2:p.Thr531Ile
CA346925867
NM_033109.5:c.1592C>T