Canonical Allele Identifier: PA263129
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 50090
ClinVar RCV Id: RCV000043356 RCV000228930 RCV000567364 RCV001727553 RCV001699111 RCV004537179
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Ala1164Val
CA019211
NM_000548.5:c.3491C>T