Canonical Allele Identifier: PA2828060244
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 41692
ClinVar RCV Id: RCV000034604 RCV000054846 RCV000186670 RCV000234486 RCV000570330
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Gln533Glu
CA005650
NM_001362177.1:c.1597C>G