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: PA2827611508

Gene: FKTN HGNC NCBI

Linked Data

ClinVar Variation Id: 1423345

ClinVar RCV Id: RCV002479442 RCV001954774

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338425.1:p.His177Arg	CA374332188 NM_001351496.2:c.530A>G