ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827006080
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
535868
ClinVar RCV Id:
RCV000644082
RCV001023148
RCV004003989
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Asp113Asn
CA394309028
NM_001318829.2:c.337G>A