ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499283579
Gene: TBC1D8B
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060222.2:p.Leu974Phe
CA10483465
NM_017752.3:c.2920C>T