ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828091544
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000055558
RCV001824119
ClinVar Variation:
65334
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350457.1:p.His597Tyr
CA015730
NM_001363528.2:c.1789C>T