Canonical Allele Identifier: PA2828059381
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 574692
ClinVar RCV Id: RCV000696695 RCV003235358 RCV003163204 RCV003892553
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Pro190Ala
CA375368729
NM_001362177.1:c.568C>G