ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916023772
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_001305761.1:p.Ser694Pro
CA10583302
NM_001318832.2:c.2080T>C