Canonical Allele Identifier: PA2828413844
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 380401
ClinVar RCV Id: RCV000441786 RCV000469602 RCV000567292 RCV001354866
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Ala1229Val
CA048770
NM_001370404.1:c.3686C>T