ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829975293
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
237979
ClinVar RCV Id:
RCV000232288
RCV001014180
RCV003311720
RCV003998809
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Ser683Pro
CA10583302
NM_021055.3:c.2047T>C