ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827004253
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000469951
RCV001543108
RCV001696845
RCV002318520
ClinVar Variation:
405984
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Asp1303Asn
CA050657
NM_001318827.2:c.3907G>A