Canonical Allele Identifier: PA319500
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207740
ClinVar RCV Id: RCV000190013 RCV001079014 RCV003150973 RCV002426919
ClinVar Variation Id: 1786560
ClinVar RCV Id: RCV002430525 RCV003626785
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Lys71Asn
CA036834
NM_000548.5:c.213G>T
CA394303573
NM_000548.5:c.213G>C