Canonical Allele Identifier: PA2827003646
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 648981
ClinVar RCV Id: RCV000803826
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Asn1125Lys
CA394291415
NM_001318827.2:c.3375C>A
CA394291418
NM_001318827.2:c.3375C>G