Canonical Allele Identifier: PA2828416148
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 467984
ClinVar RCV Id: RCV000575476 RCV000594514 RCV000761927 RCV001086235 RCV004537998
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Ala100Val
CA043693
NM_001370405.1:c.299C>T