ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827611867
Gene: FKTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
284798
ClinVar RCV Id:
RCV000301055
RCV001246865
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338426.1:p.Ser76Leu
CA5170367
NM_001351497.2:c.227C>T