Canonical Allele Identifier: PA2827001027
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 486691
ClinVar RCV Id: RCV000570261 RCV001054845 RCV004001174
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.His348Arg
CA028650
NM_001318827.2:c.1043A>G