ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580168406
Gene: TBCK
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001156908.2:p.Ser384Leu
CA357823574
NM_001163436.4:c.1151C>T