Canonical Allele Identifier: PA2827005938
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 65223
ClinVar RCV Id: RCV000055443 RCV000573567 RCV000989413 RCV001555447
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Arg49Trp
CA018319
NM_001318829.2:c.145C>T