ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA096913
Gene: FKTN
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001073270.1:p.Phe176Ser
NM_001079802.2:c.527T>C