Canonical Allele Identifier: PA2828410063
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_001357333.1:p.Arg115His
CA046888
NM_001370404.1:c.344G>A