ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826230917
Gene: FKTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1371170
ClinVar RCV Id:
RCV001899520
RCV002293536
RCV002359325
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001185892.1:p.Ala130Val
CA197437433
NM_001198963.2:c.389C>T