Canonical Allele Identifier: PA658805056
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 535973
ClinVar RCV Id: RCV000644221 RCV001565707 RCV004004016
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Arg1129His
CA394286758
NM_000548.5:c.3386G>A