ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827330728
Gene: TBC1D30
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317117.1:p.Val475Ile
CA6670190
NM_001330188.2:c.1423G>A