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: PA098040

Gene: PNKD HGNC NCBI

Linked Data

ClinVar Variation Id: 1892

ClinVar RCV Id: RCV000001969 RCV000414943 RCV001092425 RCV002512664

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_056303.3:p.Ala9Val	CA251962 NM_015488.5:c.26C>T