ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828413249
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000544493
RCV002316560
RCV003999287
ClinVar Variation:
467999
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357333.1:p.Pro1054Arg
CA045581
NM_001370404.1:c.3161C>G