Canonical Allele Identifier: PA2828094124
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 405984
ClinVar RCV Id: RCV000469951 RCV001543108 RCV001696845 RCV002318520
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Asp1340Asn
CA050657
NM_001363528.2:c.4018G>A