ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827613688
Gene: FKTN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000003362
RCV000724028
RCV001036532
RCV001192872
RCV001254647
RCV003466793
ClinVar Variation:
3208
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338430.1:p.Arg175Gln
CA116072
NM_001351501.2:c.524G>A