ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828059721
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
466025
ClinVar RCV Id:
RCV000534300
RCV002257807
RCV001195754
RCV001545105
RCV003999189
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349106.1:p.Gly322Val
CA375366083
NM_001362177.1:c.965G>T