ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828415617
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV001023842
RCV001513329
RCV004004052
ClinVar Variation:
536110
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357333.1:p.Ala1715Val
CA054932
NM_001370404.1:c.5144C>T