ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658659674
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
466052
ClinVar RCV Id:
RCV000552146
RCV002413536
RCV003235281
RCV003999200
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000359.1:p.Asp650Gly
CA200888178
NM_000368.5:c.1949A>G