Canonical Allele Identifier: PA645433352
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 390104
ClinVar RCV Id: RCV000438616 RCV003766401
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Pro1158Ala
CA046994
NM_000548.5:c.3472C>G