Canonical Allele Identifier: PA2828411194
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207715
ClinVar RCV Id: RCV000189980 RCV000549657 RCV003380512 RCV003996883
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Val461Met
CA319441
NM_001370404.1:c.1381G>A