Canonical Allele Identifier: PA2828411184
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 237964
ClinVar RCV Id: RCV000231211 RCV000765262 RCV001011245 RCV001589172 RCV003998801
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Arg458Gln
CA10583294
NM_001370404.1:c.1373G>A