Canonical Allele Identifier: PA198051
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 187598
ClinVar RCV Id: RCV000167342 RCV001230620 RCV001753574
ClinVar Variation Id: 468097
ClinVar RCV Id: RCV000535938 RCV000568343
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Phe1509Leu
CA020614
NM_000548.5:c.4527C>A
CA394302825
NM_000548.5:c.4525T>C
CA394302842
NM_000548.5:c.4527C>G