ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827612502
Gene: FKTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2095778
ClinVar RCV Id:
RCV003012507
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338427.1:p.Ser180Ile
CA374332209
NM_001351498.2:c.539G>T