Canonical Allele Identifier: PA316465
Gene: PNKP HGNC NCBI

Linked Data

ClinVar Variation Id: 206392
ClinVar RCV Id: RCV000725908 RCV001136202 RCV001406955 RCV002314737
ClinVar Variation Id: 1948904
ClinVar RCV Id: RCV002659203
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_009185.2:p.Gly225Arg
CA316464
NM_007254.4:c.673G>A
CA406886286
NM_007254.4:c.673G>C