Canonical Allele Identifier: PA319601
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207786
ClinVar RCV Id: RCV000230273 RCV001023681 RCV001721239 RCV004539760
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Arg1729His
CA054348
NM_000548.5:c.5186G>A