Canonical Allele Identifier: PA2828417407
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 41728
ClinVar RCV Id: RCV000034645 RCV000190067 RCV000644164 RCV002390139
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Asn486Lys
CA014912
NM_001370405.1:c.1458C>G
CA394325587
NM_001370405.1:c.1458C>A