Canonical Allele Identifier: PA251168
Gene: PNKP HGNC NCBI

Linked Data

ClinVar Variation Id: 159803
ClinVar RCV Id: RCV000147374 RCV000724557 RCV001055727 RCV004544343 RCV002371985 RCV003387771
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_009185.2:p.Thr323Met
CA251167
NM_007254.4:c.968C>T