Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA199623

Gene: PNKP HGNC NCBI

Linked Data

ClinVar Variation Id: 190219

ClinVar RCV Id: RCV000170438 RCV000500375 RCV001093540 RCV001226527 RCV001268911

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009185.2:p.Thr408del	CA199622 NM_007254.4:c.1221_1223del