Canonical Allele Identifier: PA2828413996
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 135383
ClinVar RCV Id: RCV000122228 RCV000644076 RCV001556535 RCV003298144 RCV003460863 RCV003997365
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Glu1277Val
CA019757
NM_001370404.1:c.3830A>T