ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA319554
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207763
ClinVar RCV Id:
RCV000190045
RCV001084324
RCV002345684
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Glu1783Lys
CA055186
NM_000548.5:c.5347G>A