Canonical Allele Identifier: PA645431860
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 238096
ClinVar RCV Id: RCV000226468 RCV001550647 RCV002372261 RCV003317165 RCV003463661 RCV003998844 RCV004532859
ClinVar Variation Id: 2057881
ClinVar RCV Id: RCV002942108
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.His307Gln
CA10583287
NM_000548.5:c.921C>G
CA394315395
NM_000548.5:c.921C>A