ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825961626
Gene: TBCK
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001156909.2:p.Ser345Leu
CA357823574
NM_001163437.3:c.1034C>T