ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827012026
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
58835
ClinVar RCV:
RCV000042935
RCV002513627
ClinVar Variation:
49673
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Arg181Lys
CA013922
NM_001318831.2:c.542G>A