Canonical Allele Identifier: PA2827000082
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 486649
ClinVar RCV Id: RCV000574862 RCV003626626
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Ile44Val
CA394301772
NM_001318827.2:c.130A>G