ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658801569
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
534452
ClinVar RCV Id:
RCV000642018
RCV002424445
RCV004003960
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000359.1:p.Arg908Gln
CA034413
NM_000368.5:c.2723G>A