Canonical Allele Identifier: PA915987259
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 466012
ClinVar RCV Id: RCV000525235 RCV001010403 RCV003424114 RCV003999185
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155899.1:p.Leu41Phe
CA027330
NM_001162427.2:c.121C>T