ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827021047
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
448738
ClinVar RCV Id:
RCV000516657
RCV000529988
RCV001023876
RCV001572599
RCV004003590
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Ser1708Asn
CA276759923
NM_001318832.2:c.5123G>A