ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825155752
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1054258
ClinVar RCV Id:
RCV001362735
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000359.1:p.Leu213Val
CA200901123
NM_000368.5:c.637C>G