ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827005652
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
468159
ClinVar RCV Id:
RCV003114667
RCV000560567
RCV003459244
RCV004527649
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Ala1675Val
CA394315621
NM_001318827.2:c.5024C>T