Canonical Allele Identifier: PA2827009212
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 238043
ClinVar RCV Id: RCV000230305 RCV000399172 RCV002243904 RCV002321860 RCV003463659
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Pro1243Ala
CA10583332
NM_001318829.2:c.3727C>G