Canonical Allele Identifier: PA2827001427
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1056722
ClinVar RCV Id: RCV001365595 RCV003382559 RCV003313218
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Thr472Ser
CA394326254
NM_001318827.2:c.1414A>T
CA394326260
NM_001318827.2:c.1415C>G