ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825571957
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
864308
ClinVar RCV Id:
RCV001071459
RCV001811642
RCV003293865
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Glu43Lys
CA394301730
NM_001114382.3:c.127G>A