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: PA2830047401

Gene: PANK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 374127

ClinVar RCV Id: RCV000414787 RCV001196627 RCV003401407

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_079236.3:p.Arg66Trp	CA9750761 NM_024960.6:c.196C>T