Canonical Allele Identifier: PA2825956436
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 514704
ClinVar RCV Id: RCV000606429 RCV000641985 RCV001013234
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155899.1:p.Pro550Leu
CA029825
NM_001162427.2:c.1649C>T