ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827612826
Gene: FKTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
658040
ClinVar RCV Id:
RCV000814776
RCV003166338
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338428.1:p.Arg58Lys
CA5170438
NM_001351499.2:c.173G>A