ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828059654
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
48752
ClinVar RCV Id:
RCV000041999
RCV000055012
RCV000422201
RCV001010542
RCV000988278
RCV001165673
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349106.1:p.Thr296Ile
CA004523
NM_001362177.1:c.887C>T