Canonical Allele Identifier: PA2827004738
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 535990
ClinVar RCV Id: RCV000644241 RCV001022800 RCV003465408 RCV003225106 RCV004004023 RCV004533367
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Asp1438Asn
CA276754962
NM_001318827.2:c.4312G>A