Canonical Allele Identifier: PA2827005133
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49335
ClinVar RCV Id: RCV000042595 RCV000359328 RCV000543686 RCV002336159
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Asn1548Ser
CA021383
NM_001318827.2:c.4643A>G