ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825953973
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000189831
RCV000230335
RCV000575687
RCV003955133
RCV003996854
ClinVar Variation:
207623
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155898.1:p.Lys30Arg
CA319269
NM_001162426.2:c.89A>G