Canonical Allele Identifier: PA2827005919
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 467970
ClinVar RCV Id: RCV000575589 RCV000546307 RCV003999279 RCV003459240
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Arg44Gln
CA394305714
NM_001318829.2:c.131G>A