Canonical Allele Identifier: PA915986946
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 64748
ClinVar RCV Id: RCV000054930 RCV000215128 RCV000465854
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155898.1:p.Arg336Gln
CA004301
NM_001162426.2:c.1007G>A