ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828415414
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000483888
ClinVar Variation:
421466
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357333.1:p.Arg1669_Ala1672del
CA16620104
NM_001370404.1:c.5006_5017del