Canonical Allele Identifier: PA2828059437
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 655206
ClinVar RCV Id: RCV000811337
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Ser210Arg
CA375368582
NM_001362177.1:c.630T>A
CA375368584
NM_001362177.1:c.630T>G
CA375368596
NM_001362177.1:c.628A>C