Canonical Allele Identifier: PA2828061407
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 486572
ClinVar RCV Id: RCV000574109 RCV000689229
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Glu1041Asp
CA037138
NM_001362177.1:c.3123A>T
CA375366263
NM_001362177.1:c.3123A>C