ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825438162
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000227467
RCV003165607
ClinVar Variation:
238042
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Ile1290Asn
CA10583331
NM_001077183.3:c.3869T>A