Canonical Allele Identifier: PA2825954429
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 207621
ClinVar RCV Id: RCV000189826 RCV001852519 RCV002321766 RCV003895230
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155898.1:p.Leu1044Phe
CA319263
NM_001162426.2:c.3130C>T