ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826363907
Gene: TBC1D1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001240841.1:p.Arg125Trp
CA2887245
NM_001253912.2:c.373C>T