Canonical Allele Identifier: PA916022786
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 468016
ClinVar RCV Id: RCV000544848 RCV001020329 RCV003999291
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Arg78His
CA046888
NM_001318827.2:c.233G>A