Canonical Allele Identifier: PA2827009470
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 486613
ClinVar RCV Id: RCV000574628 RCV000706031
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Pro1329Ala
CA394301394
NM_001318829.2:c.3985C>G