Canonical Allele Identifier: PA262523
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49235
ClinVar RCV Id: RCV000042494 RCV000460965 RCV001016860 RCV001563228 RCV002271386
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Val963Met
CA018311
NM_000548.5:c.2887G>A