Canonical Allele Identifier: PA262548
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49282
ClinVar RCV Id: RCV000042541 RCV000457664 RCV002354223 RCV001703933 RCV004537163
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Ser1341Arg
CA019836
NM_000548.5:c.4023C>A
CA394299190
NM_000548.5:c.4021A>C
CA394299211
NM_000548.5:c.4023C>G