ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827612480
Gene: FKTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1391761
ClinVar RCV Id:
RCV001893253
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338427.1:p.Ala167Thr
CA374332123
NM_001351498.2:c.499G>A