ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827019549
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
238043
ClinVar RCV Id:
RCV000230305
RCV000399172
RCV002243904
RCV002321860
RCV003463659
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Pro1302Ala
CA10583332
NM_001318832.2:c.3904C>G