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: PA2827611467

Gene: FKTN HGNC NCBI

Linked Data

ClinVar Variation Id: 944896

ClinVar RCV Id: RCV001215398 RCV003294036

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338425.1:p.Arg146Trp	CA374332000 NM_001351496.2:c.436C>T