Canonical Allele Identifier: PA319303
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 207635
ClinVar RCV Id: RCV000189854 RCV003372645 RCV003505102
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Ile724Thr
CA319301
NM_000368.5:c.2171T>C