Canonical Allele Identifier: PA658801430
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 534504
ClinVar RCV Id: RCV000642080 RCV001577881 RCV002386066 RCV004003977
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Arg245Gln
CA038606
NM_000368.5:c.734G>A