Canonical Allele Identifier: PA645435253
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 318335
ClinVar RCV Id: RCV000340816 RCV000475549 RCV002338902
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Asp1644Asn
CA053097
NM_000548.5:c.4930G>A