Canonical Allele Identifier: PA2828059501
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 449149
ClinVar RCV Id: RCV001009796 RCV000795024 RCV004003595 RCV001722439
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Met234Val
CA375367734
NM_001362177.1:c.700A>G