Canonical Allele Identifier: PA2828410946
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 486691
ClinVar RCV Id: RCV000570261 RCV001054845 RCV004001174
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.His385Arg
CA028650
NM_001370404.1:c.1154A>G