ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827005013
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
238066
ClinVar RCV Id:
RCV000229416
RCV002315687
RCV003998834
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Val1515Ile
CA052943
NM_001318827.2:c.4543G>A