Canonical Allele Identifier: PA2827006121
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49846
ClinVar RCV Id: RCV000043112 RCV000419036 RCV000989415 RCV000729019 RCV001024017 RCV000781951
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Leu131Val
CA022465
NM_001318829.2:c.391C>G