Canonical Allele Identifier: PA645435254
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 424444
ClinVar RCV Id: RCV000480140 RCV000555170
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Val1646Met
CA16620103
NM_000548.5:c.4936G>A