Canonical Allele Identifier: PA2828416624
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 405992
ClinVar RCV Id: RCV000472885 RCV000565481 RCV001584139 RCV004000689
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Arg245Cys
CA056249
NM_001370405.1:c.733C>T