ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499280688
Gene: TBC1D30
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056094.1:p.Val589Ile
CA6670190
NM_015279.2:c.1765G>A