Canonical Allele Identifier: PA2828413120
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 238014
ClinVar RCV Id: RCV000734482 RCV001083071 RCV002258838 RCV003998821
ClinVar Variation Id: 823131
ClinVar RCV Id: RCV001019085 RCV001051568 RCV003329362
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Asn1020Lys
CA044699
NM_001370404.1:c.3060C>A
CA394285620
NM_001370404.1:c.3060C>G