Canonical Allele Identifier: PA2828415329
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49443
ClinVar RCV Id: RCV000042703 RCV003626600
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Asp1646His
CA021629
NM_001370404.1:c.4936G>C