ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827611933
Gene: FKTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2441455
ClinVar RCV Id:
RCV003143996
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338426.1:p.Tyr139His
CA374332091
NM_001351497.2:c.415T>C