Canonical Allele Identifier: PA215819
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 41749
ClinVar RCV Id: RCV000034666 RCV001024070 RCV001081523
ClinVar Variation Id: 405942
ClinVar RCV Id: RCV000467233 RCV002348290
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Phe1806Leu
CA022504
NM_000548.5:c.5418T>G
CA16615055
NM_000548.5:c.5416T>C
CA394316293
NM_000548.5:c.5418T>A