Canonical Allele Identifier: PA916043265
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 466122
ClinVar RCV Id: RCV000551227 RCV001578209 RCV002256369 RCV003999218
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Pro937Thr
CA375367153
NM_001362177.1:c.2809C>A