ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829983691
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000190042
RCV001084515
RCV002257483
RCV003153466
RCV004537599
ClinVar Variation:
207760
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Arg1708His
CA054581
NM_021055.3:c.5123G>A