ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828415196
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000228578
RCV000761036
RCV001023346
ClinVar Variation:
238071
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357333.1:p.Phe1613Tyr
CA10583340
NM_001370404.1:c.4838T>A