ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829980706
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
400875
ClinVar RCV:
RCV000469951
RCV001543108
RCV001696845
RCV002318520
ClinVar Variation:
405984
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Asp1363Asn
CA050657
NM_021055.3:c.4087G>A