Canonical Allele Identifier: PA162578
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 135368
ClinVar RCV Id: RCV000122195 RCV000545661 RCV001707532 RCV002321603 RCV003997360
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Thr1047Ile
CA007195
NM_000368.5:c.3140C>T