ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499294737
Gene: PNPT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149100.2:p.Ala680Val
CA346923786
NM_033109.5:c.2039C>T