ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827613993
Gene: FKTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1199352
ClinVar RCV Id:
RCV001563926
RCV001563927
RCV001563928
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338431.1:p.Asp194Gly
CA5170542
NM_001351502.2:c.581A>G