Canonical Allele Identifier: PA2825918427
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 48896
ClinVar RCV Id: RCV000042147
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155898.1:p.Gln700His
CA006014
NM_001162426.2:c.2100G>T
CA375361047
NM_001162426.2:c.2100G>C