ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829981800
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000055306
RCV003512006
ClinVar Variation:
65095
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Leu1505Pro
CA020803
NM_021055.3:c.4514T>C