ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827019684
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207682
ClinVar RCV Id:
RCV000189928
RCV001852522
RCV003298247
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Asp1344Asn
CA319383
NM_001318832.2:c.4030G>A