Canonical Allele Identifier: PA262739
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49528
ClinVar RCV Id: RCV000042788 RCV000996158
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Trp1208Arg
CA019404
NM_000548.5:c.3622T>C
CA394291505
NM_000548.5:c.3622T>A