ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825439483
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
529736
ClinVar RCV:
RCV000644161
RCV002334132
ClinVar Variation:
535931
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.His1659Tyr
CA054330
NM_001077183.3:c.4975C>T