ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827015300
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000043391
RCV000543604
RCV001022275
ClinVar Variation:
50124
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Arg1194Gln
CA020250
NM_001318831.2:c.3581G>A