Canonical Allele Identifier: PA242028
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 195563
ClinVar RCV Id: RCV000176157 RCV000571983 RCV001088675 RCV003995681
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Arg885Gln
CA006799
NM_000368.5:c.2654G>A