ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827021062
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000547303
RCV000570898
RCV003403303
ClinVar Variation:
468155
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Leu1711Val
CA054998
NM_001318832.2:c.5131C>G