ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827612490
Gene: FKTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2675717
ClinVar RCV Id:
RCV003476407
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338427.1:p.His172Arg
CA374332157
NM_001351498.2:c.515A>G