Canonical Allele Identifier: PA2828415516
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 468147
ClinVar RCV Id: RCV000550602 RCV002341373 RCV000604770 RCV003999327 RCV004538003
ClinVar Variation Id: 2806460
ClinVar RCV Id: RCV003627753
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Ile1691Val
CA054409
NM_001370404.1:c.5071A>G
CA2739269936
NM_001370404.1:c.5070_5071delinsCG