ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825957106
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_001155899.1:p.Met720Val
CA16605547
NM_001162427.2:c.2158A>G