Canonical Allele Identifier: PA319422
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207707
ClinVar RCV Id: RCV000527430 RCV000568400 RCV004537594
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Ala289Val
CA056623
NM_000548.5:c.866C>T