ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829978898
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_066399.2:p.Val1101Met
CA019154
NM_021055.3:c.3301G>A