Canonical Allele Identifier: PA916023971
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 422850
ClinVar RCV Id: RCV000487076 RCV001037910 RCV002455934
ClinVar Variation Id: 535905
ClinVar RCV Id: RCV000644131
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305761.1:p.Val897Leu
CA16620093
NM_001318832.2:c.2689G>C
CA394279221
NM_001318832.2:c.2689G>T