Canonical Allele Identifier: PA2828410493
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49384
ClinVar RCV Id: RCV000042644 RCV000554931 RCV000612409 RCV002288539 RCV002381326 RCV003460556
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Thr246Ala
CA022910
NM_001370404.1:c.736A>G