Canonical Allele Identifier: PA645433519
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 406092
ClinVar RCV Id: RCV000475309 RCV002348295
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Gln1229Arg
CA16614724
NM_000548.5:c.3686A>G