ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825458754
Gene: FKTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2081845
ClinVar RCV Id:
RCV002995662
RCV003308400
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073270.1:p.Leu160Pro
CA374332082
NM_001079802.2:c.479T>C