Canonical Allele Identifier: PA915986820
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 41699
ClinVar RCV Id: RCV000034612 RCV001080486 RCV001017939
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155898.1:p.Arg284His
CA008318
NM_001162426.2:c.851G>A