ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826788613
Gene: TBCK
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001277697.2:p.Ser212Leu
CA357823574
NM_001290768.2:c.635C>T