ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825435470
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001011553
ClinVar Variation:
819200
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Gln478Glu
CA394324088
NM_001077183.3:c.1432C>G