Canonical Allele Identifier: PA2828415290
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49342
ClinVar RCV Id: RCV000042602 RCV003298086
ClinVar Variation Id: 1744965
ClinVar RCV Id: RCV002335678
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Asn1637Lys
CA021576
NM_001370404.1:c.4911C>G
CA394311454
NM_001370404.1:c.4911C>A