Canonical Allele Identifier: PA323571
Gene: PNPT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 215005
ClinVar RCV Id: RCV000199028 RCV001332755 RCV003152597
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_149100.2:p.Pro165Ser
CA323570
NM_033109.5:c.493C>T