ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828271939
Gene: TBC1D32
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1588690
ClinVar RCV Id:
RCV002098401
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001354688.1:p.Ser505Cys
CA3981127
NM_001367759.1:c.1513A>T