ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916024025
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
238000
ClinVar RCV Id:
RCV000232107
RCV000413302
RCV002433957
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Asn952Asp
CA10583315
NM_001318832.2:c.2854A>G