Canonical Allele Identifier: PA2828420823
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 405960
ClinVar RCV Id: RCV000459439 RCV001249140 RCV001022659 RCV004000680
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Asp1469Asn
CA16614792
NM_001370405.1:c.4405G>A