ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825439227
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_001070651.1:p.Phe1590Tyr
CA10583340
NM_001077183.3:c.4769T>A