Canonical Allele Identifier: PA2827010390
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 575511
ClinVar RCV Id: RCV000697746 RCV001257268 RCV002334334
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Pro1617Ala
CA394314192
NM_001318829.2:c.4849C>G