ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827632041
Gene: TKFC
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338905.1:p.Arg543Ile
CA6034203
NM_001351976.2:c.1628G>T