Canonical Allele Identifier: PA2499294729
Gene: PNPT1 HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_149100.2:p.Leu367Phe
CA1668221
NM_033109.5:c.1099C>T