Canonical Allele Identifier: PA2827004366
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 388436
ClinVar RCV Id: RCV000441035 RCV001086097 RCV001119330 RCV002328977
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Pro1338Ser
CA16607171
NM_001318827.2:c.4012C>T