ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827003432
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000034650
RCV000055184
RCV000122226
RCV000163263
RCV000989431
RCV004541070
ClinVar Variation:
41733
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Val1064Met
CA019154
NM_001318827.2:c.3190G>A