Canonical Allele Identifier: PA2828411709
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 41730
ClinVar RCV Id: RCV000034647 RCV000054869 RCV000175145 RCV000163316 RCV000989422
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Ala607Thr
CA015854
NM_001370404.1:c.1819G>A