ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825957172
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
385369
ClinVar RCV Id:
RCV000424798
RCV001861557
RCV002256231
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155898.1:p.Met770Val
CA16605547
NM_001162426.2:c.2308A>G