Canonical Allele Identifier: PA2825955054
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 49058
ClinVar RCV Id: RCV000042311 RCV000442086
ClinVar Variation Id: 1679947
ClinVar RCV Id: RCV002236392
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155899.1:p.Arg139Pro
CA007774
NM_001162427.2:c.416G>C
CA2573144299
NM_001162427.2:c.416_417delinsCT