Canonical Allele Identifier: PA645413455
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 411234
ClinVar RCV Id: RCV001016721 RCV000467686 RCV004001896
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Ala944Thr
CA034791
NM_000368.5:c.2830G>A