Canonical Allele Identifier: PA2825434169
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 237966
ClinVar RCV Id: RCV000243799 RCV000726243 RCV001011846 RCV001086583 RCV003998803
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001070651.1:p.Met50Val
CA030828
NM_001077183.3:c.148A>G