Canonical Allele Identifier: PA2828414940
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2679328
ClinVar RCV Id: RCV003464712
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Ile1538Val
CA394307677
NM_001370404.1:c.4612A>G