ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826230966
Gene: FKTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1421253
ClinVar RCV Id:
RCV001916830
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001185892.1:p.His169Asp
CA374332136
NM_001198963.2:c.505C>G