ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827002978
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000319884
RCV000686655
RCV001551212
RCV002436165
ClinVar Variation:
318323
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Lys908Arg
CA10648020
NM_001318827.2:c.2723A>G