ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825437928
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1735113
ClinVar RCV Id:
RCV002355213
RCV003102451
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Asn1226His
CA394293629
NM_001077183.3:c.3676A>C