Canonical Allele Identifier: PA645413569
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 237719
ClinVar RCV Id: RCV000228446 RCV001020245 RCV003998779
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.His1139Pro
CA10582619
NM_000368.5:c.3416A>C