Canonical Allele Identifier: PA2827001477
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49681
ClinVar RCV Id: RCV000055336 RCV000042943 RCV000228102 RCV000248978 RCV000566826 RCV001719785
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Asn488Ser
CA015117
NM_001318827.2:c.1463A>G