Canonical Allele Identifier: PA2828411640
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 509382
ClinVar RCV Id: RCV000615980 RCV000688126 RCV002404637 RCV004002515
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Ser592Asn
CA033474
NM_001370404.1:c.1775G>A