ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829979445
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000042789
RCV000254034
RCV001069687
ClinVar Variation:
49529
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Trp1165Gly
CA019409
NM_021055.3:c.3493T>G