ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827004027
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000531608
ClinVar Variation:
468059
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Ser1237Phe
CA050173
NM_001318827.2:c.3710C>T