Canonical Allele Identifier: PA2827018934
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 390104
ClinVar RCV Id: RCV000438616 RCV003766401
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305761.1:p.Pro1125Ala
CA046994
NM_001318832.2:c.3373C>G