Canonical Allele Identifier: PA210057
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49931
ClinVar RCV Id: RCV000043198 RCV000201077
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Arg1713Pro
CA021846
NM_000548.5:c.5138G>C