Canonical Allele Identifier: PA2828059527
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 411229
ClinVar RCV Id: RCV000467445 RCV004022868
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Pro245Ala
CA16612486
NM_001362177.1:c.733C>G