Canonical Allele Identifier: PA2827006190
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 187388
ClinVar RCV Id: RCV000167112 RCV000233190 RCV001721086 RCV003995559
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Ala161Val
CA022710
NM_001318829.2:c.482C>T