Canonical Allele Identifier: PA2829982958
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 535926
ClinVar RCV Id: RCV000644156 RCV001023500
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_066399.2:p.Glu1649Asp
CA394311952
NM_021055.3:c.4947G>C
CA394311954
NM_021055.3:c.4947G>T