Canonical Allele Identifier: PA2828414445
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_001357333.1:p.Arg1407Ser
CA050936
NM_001370404.1:c.4219C>A