Canonical Allele Identifier: PA2499240258
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1002179
ClinVar RCV Id: RCV001298562
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155898.1:p.Arg316Leu
CA375368701
NM_001162426.2:c.947G>T