ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829982326
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_066399.2:p.Val1575Ile
CA052943
NM_021055.3:c.4723G>A