Canonical Allele Identifier: PA916043209
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 486560
ClinVar RCV Id: RCV000569391 RCV000642000 RCV001570618 RCV004001132
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Asp35Ala
CA200901578
NM_001362177.1:c.104A>C