Canonical Allele Identifier: PA264465
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 64976
ClinVar RCV Id: RCV000055179 RCV000231616 RCV000431368 RCV000564084 RCV001703957 RCV004537240
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Arg537Cys
CA015300
NM_000548.5:c.1609C>T