Canonical Allele Identifier: PA2828416854
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 238099
ClinVar RCV Id: RCV000226007 RCV001019379 RCV001770191 RCV003998846
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Pro316Gln
CA056703
NM_001370405.1:c.947C>A