ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830094788
Gene: TBCK
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149106.3:p.Ser321Leu
CA357823574
NM_033115.5:c.962C>T