Canonical Allele Identifier: PA2828095537
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 238085
ClinVar RCV Id: RCV000520770 RCV001086979 RCV002347871 RCV003998839
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Pro1715Leu
CA10583347
NM_001363528.2:c.5144C>T