Canonical Allele Identifier: PA2828060336
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 41693
ClinVar RCV Id: RCV000034605 RCV000163566 RCV001083067 RCV003996171
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Arg568His
CA005883
NM_001362177.1:c.1703G>A