Canonical Allele Identifier: PA2825955595
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 378767
ClinVar RCV Id: RCV000567359 RCV000734481 RCV001083120 RCV003902488 RCV003995989
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155898.1:p.Leu387Pro
CA027202
NM_001162426.2:c.1160T>C