ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825458666
Gene: FKTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1986877
ClinVar RCV Id:
RCV002770849
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073270.1:p.Ala130Thr
CA374331892
NM_001079802.2:c.388G>A