Canonical Allele Identifier: PA2827007119
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 535951
ClinVar RCV Id: RCV000644187 RCV001771884 RCV002397241 RCV003459537 RCV004004012 RCV004544866
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Pro493Leu
CA031818
NM_001318829.2:c.1478C>T