Canonical Allele Identifier: PA2499275988
Gene: PNKP HGNC NCBI

Linked Data

ClinVar Variation Id: 1044449
ClinVar RCV Id: RCV001348694

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_009185.2:p.Ser470Phe
CA406932833
NM_007254.4:c.1409C>T