Canonical Allele Identifier: PA2827005801
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207736
ClinVar RCV Id: RCV000575026 RCV000468262 RCV001705072 RCV003996890
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Glu2Ala
CA030988
NM_001318829.2:c.5A>C