ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829284475
Gene: TBC1D1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003979545
ClinVar Variation:
3058918
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001383888.1:p.Arg125Trp
CA2887245
NM_001396959.1:c.373C>T