Canonical Allele Identifier: PA2828415670
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 486616
ClinVar RCV Id: RCV000561599 RCV000609138 RCV000798867 RCV003736826
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Pro1727Ala
CA055040
NM_001370404.1:c.5179C>G