Canonical Allele Identifier: PA2827019129
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 535872
ClinVar RCV Id: RCV000644090 RCV002343303 RCV003465405
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305761.1:p.Pro1182Leu
CA276749978
NM_001318832.2:c.3545C>T