Canonical Allele Identifier: PA915986823
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 411210
ClinVar RCV Id: RCV000458416 RCV000565985 RCV000610190 RCV004001889
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155898.1:p.Arg288Cys
CA039240
NM_001162426.2:c.862C>T