ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825575574
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
41733
ClinVar RCV Id:
RCV000034650
RCV000055184
RCV000122226
RCV000163263
RCV000989431
RCV004541070
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Val1144Met
CA019154
NM_001114382.3:c.3430G>A