ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828059911
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
184443
ClinVar RCV Id:
RCV000163699
RCV000641964
RCV003995272
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349106.1:p.Gln406Arg
CA005092
NM_001362177.1:c.1217A>G