ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827614084
Gene: FKTN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000380549
RCV000766041
RCV001081484
RCV002365305
RCV004543026
ClinVar Variation:
283469
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338431.1:p.His278Asn
CA5170600
NM_001351502.2:c.832C>A