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: PA2827613173

Gene: FKTN HGNC NCBI

Linked Data

ClinVar Variation Id: 285381

ClinVar RCV Id: RCV000367677 RCV001859615 RCV002487225

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338429.1:p.His45Gln	CA5170432 NM_001351500.2:c.135T>A CA374332189 NM_001351500.2:c.135T>G