Canonical Allele Identifier: PA2827000441
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 65103
ClinVar RCV Id: RCV000055314 RCV000533936 RCV001553178 RCV002255276
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Arg171Trp
CA022695
NM_001318827.2:c.511C>T