Canonical Allele Identifier: PA2827008121
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 65104
ClinVar RCV Id: RCV000055380 RCV000055315 RCV000189909 RCV000644061 RCV000562671
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Pro829Ser
CA017740
NM_001318829.2:c.2485C>T