Canonical Allele Identifier: PA2828421663
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49471
ClinVar RCV Id: RCV000042731 RCV000201065 RCV000190076 RCV000491169 RCV000763368 RCV004537168
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Arg1696Trp
CA022213
NM_001370405.1:c.5086C>T