ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827611944
Gene: FKTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3214
ClinVar RCV Id:
RCV000003369
RCV003472964
RCV003591619
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338426.1:p.Ala147Glu
CA116080
NM_001351497.2:c.440C>A