ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828094937
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
135390
ClinVar RCV Id:
RCV000122239
RCV000477100
RCV000572602
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350457.1:p.Arg1568His
CA021194
NM_001363528.2:c.4703G>A