ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA116087
Gene: FKTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3215
ClinVar RCV Id:
RCV000003370
RCV000554503
RCV002433443
RCV003466794
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006722.2:p.Tyr371Cys
CA116084
NM_006731.2:c.1112A>G