Canonical Allele Identifier: PA2827004075
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 486660
ClinVar RCV Id: RCV000563553 RCV000983892 RCV003392417 RCV004001165
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Val1250Ile
CA050315
NM_001318827.2:c.3748G>A