Canonical Allele Identifier: PA2827005976
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207766
ClinVar RCV Id: RCV000546990 RCV000575342 RCV002469054 RCV003477648 RCV003996898
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Ala72Gly
CA047888
NM_001318829.2:c.215C>G