ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827000575
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
318307
ClinVar RCV Id:
RCV000465522
RCV002379195
RCV000405414
RCV000433208
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Ile210Val
CA056277
NM_001318827.2:c.628A>G