Canonical Allele Identifier: PA2828415203
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 406065
ClinVar RCV Id: RCV000469448 RCV001023350
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Lys1614Arg
CA16615040
NM_001370404.1:c.4841A>G