ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658659357
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
466150
ClinVar RCV Id:
RCV002377089
RCV000542889
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000359.1:p.Arg22Gln
CA038390
NM_000368.5:c.65G>A