Canonical Allele Identifier: PA645432420
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 231749
ClinVar RCV Id: RCV000223317 RCV001216217
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Pro727Leu
CA036994
NM_000548.5:c.2180C>T