ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828416543
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
468173
ClinVar RCV Id:
RCV000528200
RCV002255451
RCV003999333
RCV003237914
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357334.1:p.Ala224Thr
CA056104
NM_001370405.1:c.670G>A