Canonical Allele Identifier: PA645413494
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 411225
ClinVar RCV Id: RCV000457246 RCV002446833 RCV004001893
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Pro1023Ser
CA035733
NM_000368.5:c.3067C>T