Canonical Allele Identifier: PA645432308
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 237976
ClinVar RCV Id: RCV000231534 RCV000605322 RCV000571411 RCV002478840 RCV003477796 RCV004532842 RCV003998807
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Val679Met
CA035939
NM_000548.5:c.2035G>A