ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827612798
Gene: FKTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1513943
ClinVar RCV Id:
RCV002026427
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338428.1:p.Val42Ile
CA197437781
NM_001351499.2:c.124G>A