Canonical Allele Identifier: PA2828416181
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207698
ClinVar RCV Id: RCV000189956 RCV000233520 RCV002321769 RCV003996875
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Val109Met
CA045030
NM_001370405.1:c.325G>A