ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827011756
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
49565
ClinVar RCV Id:
RCV000042825
RCV000163970
RCV000122221
RCV000727358
RCV001086743
RCV004541223
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Val955Ala
CA018645
NM_001318829.2:c.2864T>C