ClinGen Allele Registry
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Canonical Allele Identifier:
PA915986703
Gene: TSC1
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001155898.1:p.Arg245Ter
NM_001162426.2:c.[732del;734G>T]
NM_001162426.2:c.[732del;734G>T;736A>G]
NM_001162426.2:c.733C>T