Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA2742001439

Gene: PNPT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2582536

ClinVar RCV Id: RCV003333537

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_149100.2:p.Ser131Arg	CA346940486 NM_033109.5:c.393T>G CA346940497 NM_033109.5:c.393T>A CA346940513 NM_033109.5:c.391A>C