ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828421280
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
59140
ClinVar RCV:
RCV000043245
RCV001238557
RCV002345329
ClinVar Variation:
49978
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357334.1:p.Gly1599Asp
CA021290
NM_001370405.1:c.4796G>A