Canonical Allele Identifier: PA2825576167
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 486660
ClinVar RCV Id: RCV000563553 RCV000983892 RCV003392417 RCV004001165
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001107854.1:p.Val1330Ile
CA050315
NM_001114382.3:c.3988G>A