ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828089678
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
535900
ClinVar RCV Id:
RCV000644123
RCV002386073
RCV004003998
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350457.1:p.Gly33Asp
CA394301452
NM_001363528.2:c.98G>A