ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573304600
Gene: TBC1D32
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV002098401
ClinVar Variation:
1588690
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_689943.4:p.Ser505Cys
CA3981127
NM_152730.6:c.1513A>T