ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827461120
Gene: TBC1D5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2555370
ClinVar RCV Id:
RCV004326896
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336005.1:p.Val131Ala
CA351937201
NM_001349076.2:c.392T>C