Canonical Allele Identifier: PA262333
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 49015
ClinVar RCV Id: RCV000042266 RCV000189827 RCV000227692 RCV000563572 RCV001093203 RCV001167647 RCV003915005
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Arg1062Trp
CA007223
NM_000368.5:c.3184C>T