ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829974234
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000042429
RCV001298722
RCV001565367
ClinVar Variation:
49173
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.His593Arg
CA015696
NM_021055.3:c.1778A>G