Canonical Allele Identifier: PA2827012844
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 256621
ClinVar RCV Id: RCV000245013 RCV003626612
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.His397Gln
CA10587224
NM_001318831.2:c.1191C>G
CA394272928
NM_001318831.2:c.1191C>A