ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829982418
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_066399.2:p.Arg1591His
CA021194
NM_021055.3:c.4772G>A