ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829981126
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000043096
RCV001022358
RCV001050539
ClinVar Variation:
49830
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Ser1411Gly
CA020332
NM_021055.3:c.4231A>G