Canonical Allele Identifier: PA2828414795
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1741992
ClinVar RCV Id: RCV002342542 RCV003626723 RCV004005669
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.His1499Gln
CA051970
NM_001370404.1:c.4497C>G
CA394304854
NM_001370404.1:c.4497C>A