Canonical Allele Identifier: PA2828091903
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 237979
ClinVar RCV Id: RCV000232288 RCV001014180 RCV003311720 RCV003998809
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Ser683Pro
CA10583302
NM_001363528.2:c.2047T>C