ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573203223
Gene: FKTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1498251
ClinVar RCV Id:
RCV002019612
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338426.1:p.Pro84Ala
CA374331731
NM_001351497.2:c.250C>G