ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827612160
Gene: FKTN
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338426.1:p.Tyr348Cys
CA116084
NM_001351497.2:c.1043A>G