Canonical Allele Identifier: PA2825955821
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2895483
ClinVar RCV Id: RCV003615224
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155899.1:p.Arg373Lys
CA375366213
NM_001162427.2:c.1118G>A