Canonical Allele Identifier: PA2828060550
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 185435
ClinVar RCV Id: RCV000164860 RCV000983928 RCV003995371
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Met650Thr
CA006280
NM_001362177.1:c.1949T>C