Canonical Allele Identifier: PA915991003
Gene: PNKP HGNC NCBI

Linked Data

ClinVar Variation Id: 650019
ClinVar RCV Id: RCV000805090

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_009185.2:p.Ser475Leu
CA406932781
NM_007254.4:c.1424C>T