Canonical Allele Identifier: PA2828094224
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207785
ClinVar RCV Id: RCV000190079 RCV000695662 RCV001022271 RCV003462296 RCV003996900
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Arg1372Trp
CA050835
NM_001363528.2:c.4114C>T