ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827612949
Gene: FKTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
238269
ClinVar RCV Id:
RCV000234043
RCV000999196
RCV002494632
RCV003372658
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338428.1:p.Asn178Ser
CA5170538
NM_001351499.2:c.533A>G