ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828417623
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
486688
ClinVar RCV Id:
RCV000572824
RCV001509505
RCV000804218
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357334.1:p.Ala552Thr
CA394268001
NM_001370405.1:c.1654G>A