Canonical Allele Identifier: PA2580492272
Gene: PNPT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2108896
ClinVar RCV Id: RCV003017749
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_149100.2:p.Glu688Asp
CA1667827
NM_033109.5:c.2064A>T
CA346923733
NM_033109.5:c.2064A>C