ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827612068
Gene: FKTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
290479
ClinVar RCV Id:
RCV000263255
RCV000526522
RCV001169710
RCV001169711
RCV002429237
RCV002487283
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338426.1:p.Arg251Trp
CA5170500
NM_001351497.2:c.751C>T