Canonical Allele Identifier: PA2827000490
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 468173
ClinVar RCV Id: RCV000528200 RCV002255451 RCV003999333 RCV003237914
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Ala187Thr
CA056104
NM_001318827.2:c.559G>A