ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827612607
Gene: FKTN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000263255
RCV000526522
RCV001169710
RCV001169711
RCV002429237
RCV002487283
ClinVar Variation:
290479
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338427.1:p.Arg274Trp
CA5170500
NM_001351498.2:c.820C>T