ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829982475
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
49978
ClinVar RCV Id:
RCV000043245
RCV001238557
RCV002345329
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Gly1599Asp
CA021290
NM_021055.3:c.4796G>A