Canonical Allele Identifier: PA2827004502
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 535987
ClinVar RCV Id: RCV000644237 RCV002051724 RCV002331192 RCV004004022
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Asp1375Asn
CA394302242
NM_001318827.2:c.4123G>A