Canonical Allele Identifier: PA319271
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 207623
ClinVar RCV Id: RCV000189831 RCV000230335 RCV000575687 RCV003955133 RCV003996854
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Lys30Arg
CA319269
NM_000368.5:c.89A>G