ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA233999
Gene: FKTN
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_006722.2:p.Cys137Ter
NM_006731.2:c.411C>A