ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828414855
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
49794
ClinVar RCV Id:
RCV000043059
RCV001054560
RCV001200217
RCV003162358
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357333.1:p.Glu1514Lys
CA020888
NM_001370404.1:c.4540G>A