ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827015958
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_001305760.1:p.Val1374Ile
CA052943
NM_001318831.2:c.4120G>A