Canonical Allele Identifier: PA658681218
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 468084
ClinVar RCV Id: RCV000557731 RCV001022338 RCV003999314 RCV004527648
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Arg1451Ser
CA050936
NM_000548.5:c.4351C>A