Canonical Allele Identifier: PA2825955146
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 534416
ClinVar RCV Id: RCV000641970 RCV001025559 RCV002477414
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155899.1:p.Met173Leu
CA200900992
NM_001162427.2:c.517A>T
CA375371515
NM_001162427.2:c.517A>C