Canonical Allele Identifier: PA2828415639
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 448738
ClinVar RCV Id: RCV000516657 RCV000529988 RCV001023876 RCV001572599 RCV004003590
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Ser1720Asn
CA276759923
NM_001370404.1:c.5159G>A