Canonical Allele Identifier: PA319316
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 207640
ClinVar RCV Id: RCV000189859 RCV001080753 RCV001018741 RCV001818461
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Ser1042Ile
CA035967
NM_000368.5:c.3125G>T