ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829979420
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
50148
ClinVar RCV Id:
RCV000043416
RCV000201026
RCV000414012
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Gly1161Glu
CA019384
NM_021055.3:c.3482G>A