Canonical Allele Identifier: PA2828060303
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 207613
ClinVar RCV Id: RCV000189817 RCV001014108 RCV001083108 RCV003996852
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Trp555Arg
CA030669
NM_001362177.1:c.1663T>A
CA375361293
NM_001362177.1:c.1663T>C