Canonical Allele Identifier: PA645495449
Gene: PNKP HGNC NCBI

Linked Data

ClinVar Variation Id: 423477
ClinVar RCV Id: RCV000478755

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_009185.2:p.Arg483Ser
CA9586345
NM_007254.4:c.1449G>T
CA16620872
NM_007254.4:c.1449G>C