Canonical Allele Identifier: PA2828411858
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 41731
ClinVar RCV Id: RCV000034648 RCV000054861 RCV000562486 RCV000989423 RCV004534722
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Asp647Asn
CA016233
NM_001370404.1:c.1939G>A