Canonical Allele Identifier: PA2827005245
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 486644
ClinVar RCV Id: RCV000567505 RCV001065808 RCV001764691 RCV003465277
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Asn1578Asp
CA394311437
NM_001318827.2:c.4732A>G