ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827002654
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
400854
ClinVar RCV:
RCV000458545
RCV002257697
RCV002291628
RCV003463868
ClinVar Variation:
406086
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Glu808Gly
CA039405
NM_001318827.2:c.2423A>G