Canonical Allele Identifier: PA2828413114
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 64897
ClinVar RCV Id: RCV000055098 RCV000491308
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Leu1017Pro
CA018665
NM_001370404.1:c.3050T>C