ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827005918
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
467968
ClinVar RCV Id:
RCV000557507
RCV003999278
RCV004024047
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Arg44Trp
CA041936
NM_001318829.2:c.130C>T