Canonical Allele Identifier: PA2828417423
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 406025
ClinVar RCV Id: RCV000477110 RCV001011767
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Ser491Leu
CA030754
NM_001370405.1:c.1472C>T