ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA319453
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207719
ClinVar RCV Id:
RCV000189985
RCV001012413
RCV001088401
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Arg537His
CA031730
NM_000548.5:c.1610G>A