Canonical Allele Identifier: PA2573166386
Gene: PNP HGNC NCBI

Linked Data

ClinVar Variation Id: 1398460
ClinVar RCV Id: RCV001915071

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000261.2:p.Asp49Glu
CA389144745
NM_000270.4:c.147C>A
CA389144746
NM_000270.4:c.147C>G