ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827020740
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
49344
ClinVar RCV Id:
RCV000042604
RCV000553605
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Asp1634Tyr
CA021630
NM_001318832.2:c.4900G>T