ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828410625
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
50010
ClinVar RCV Id:
RCV000043278
RCV000421501
RCV000457171
RCV001018037
RCV002262605
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357333.1:p.Met286Thr
CA023058
NM_001370404.1:c.857T>C