Canonical Allele Identifier: PA2827003710
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 486656
ClinVar RCV Id: RCV000573539 RCV000644066
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Pro1147Ser
CA394292308
NM_001318827.2:c.3439C>T