ClinGen Allele Registry
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Canonical Allele Identifier:
PA916023566
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
237969
ClinVar RCV Id:
RCV000226536
RCV002282073
RCV002399815
RCV003998805
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Ser549Phe
CA10583296
NM_001318832.2:c.1646C>T