ClinGen Allele Registry
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Canonical Allele Identifier:
PA916024040
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
401519
ClinVar RCV:
RCV000475335
RCV000761103
RCV002436402
ClinVar Variation:
406089
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Asp980Gly
CA16615087
NM_001318832.2:c.2939A>G