ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825438570
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000189932
RCV000218843
RCV000458406
RCV003996870
ClinVar Variation:
207685
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Glu1409Lys
CA051101
NM_001077183.3:c.4225G>A