Canonical Allele Identifier: PA2825919202
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 237714
ClinVar RCV Id: RCV000226388 RCV000573300 RCV001169544 RCV001536549 RCV003998776
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155898.1:p.Glu989Lys
CA035148
NM_001162426.2:c.2965G>A