Canonical Allele Identifier: PA2827000778
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 238097
ClinVar RCV Id: RCV000229314 RCV003237787 RCV002372262 RCV003998845
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Tyr273Cys
CA10583288
NM_001318827.2:c.818A>G