Canonical Allele Identifier: PA2829974263
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207722
ClinVar RCV Id: RCV000189988 RCV001236049
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_066399.2:p.Lys599Arg
CA033543
NM_021055.3:c.1796A>G