Canonical Allele Identifier: PA2827001576
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207720
ClinVar RCV Id: RCV000189986 RCV001083566 RCV002256101 RCV003996885
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Ser517Leu
CA032083
NM_001318827.2:c.1550C>T