ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825860550
Gene: TBC1D7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
500788
ClinVar RCV Id:
RCV000594426
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001137438.1:p.Pro240Ser
CA3639616
NM_001143966.4:c.718C>T