ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827006406
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000043278
RCV000421501
RCV000457171
RCV001018037
RCV002262605
ClinVar Variation:
50010
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Met237Thr
CA023058
NM_001318829.2:c.710T>C