ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829982335
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
65243
ClinVar RCV Id:
RCV000055464
RCV000590930
RCV002513723
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.His1577Arg
CA021150
NM_021055.3:c.4730A>G