Canonical Allele Identifier: PA2828060453
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 863763
ClinVar RCV Id: RCV001070811
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Ala607Ser
CA375360704
NM_001362177.1:c.1819G>T