Canonical Allele Identifier: PA2828412467
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 467942
ClinVar RCV Id: RCV000535705 RCV001015534 RCV003153712 RCV003999270
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Val813Met
CA039041
NM_001370404.1:c.2437G>A