ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827461619
Gene: TBC1D5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2210129
ClinVar RCV Id:
RCV004081536
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336014.1:p.Met491Lys
CA70846197
NM_001349085.2:c.1472T>A