Canonical Allele Identifier: PA2827008130
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1488823
ClinVar RCV Id: RCV001980328
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Asn833Lys
CA394279170
NM_001318829.2:c.2499T>A
CA394279172
NM_001318829.2:c.2499T>G