ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828409989
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
467970
ClinVar RCV Id:
RCV000575589
RCV000546307
RCV003999279
RCV003459240
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357333.1:p.Arg93Gln
CA394305714
NM_001370404.1:c.278G>A