Canonical Allele Identifier: PA2827006052
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 65379
ClinVar RCV Id: RCV000055607 RCV000575914 RCV000465969 RCV001557660 RCV003996482
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.His103Asp
CA020642
NM_001318829.2:c.307C>G