Canonical Allele Identifier: PA2828414728
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 639390
ClinVar RCV Id: RCV000792166 RCV004001563
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Gln1481Arg
CA394304325
NM_001370404.1:c.4442A>G