Canonical Allele Identifier: PA2825919195
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 365510
ClinVar RCV Id: RCV000300433 RCV000868465 RCV001017692 RCV001584094 RCV003392219
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155898.1:p.Ala988Ser
CA035133
NM_001162426.2:c.2962G>T