Canonical Allele Identifier: PA263004
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49912
ClinVar RCV Id: RCV000043179 RCV000189943 RCV000512881 RCV000571102 RCV001082733 RCV002222154
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Arg1706Cys
CA021761
NM_000548.5:c.5116C>T