ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827611380
Gene: FKTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1423621
ClinVar RCV Id:
RCV002479446
RCV001928965
RCV003146365
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338425.1:p.Leu80Pro
CA5170360
NM_001351496.2:c.239T>C