ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827011814
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
428000
ClinVar RCV Id:
RCV000491778
RCV000542621
RCV001577170
RCV004003437
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Thr978Met
CA044749
NM_001318829.2:c.2933C>T