Canonical Allele Identifier: PA658659373
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 466023
ClinVar RCV Id: RCV000550137 RCV002384148
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Thr44Ala
CA375375194
NM_000368.5:c.130A>G