ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827010063
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
135390
ClinVar RCV Id:
RCV000122239
RCV000477100
RCV000572602
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Arg1519His
CA021194
NM_001318829.2:c.4556G>A