ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA263072
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_000539.2:p.Met286Thr
CA023058
NM_000548.5:c.857T>C