Canonical Allele Identifier: PA2827018636
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207742
ClinVar RCV Id: RCV000531095 RCV000765271 RCV002321770
ClinVar Variation Id: 3232136
ClinVar RCV Id: RCV004520819
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305761.1:p.Gly1043Arg
CA044834
NM_001318832.2:c.3127G>A
CA394285992
NM_001318832.2:c.3127G>C