Canonical Allele Identifier: PA319376
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207678
ClinVar RCV Id: RCV000469044 RCV001020619 RCV001721231
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Leu1189Val
CA319374
NM_000548.5:c.3565C>G