Canonical Allele Identifier: PA2828413235
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 50058
ClinVar RCV Id: RCV000043324 RCV001042713 RCV002321537 RCV003313034
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Ser1051Asn
CA018827
NM_001370404.1:c.3152G>A