Canonical Allele Identifier: PA262212
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 48842
ClinVar RCV Id: RCV000042091 RCV001380989 RCV002286701
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Leu61Pro
CA005453
NM_000368.5:c.182T>C