ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580349214
Gene: FKTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1960086
ClinVar RCV Id:
RCV002715306
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006722.2:p.Thr65Ile
CA374331453
NM_006731.2:c.194C>T