ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827016937
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207766
ClinVar RCV Id:
RCV000546990
RCV000575342
RCV002469054
RCV003477648
RCV003996898
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Ala132Gly
CA047888
NM_001318832.2:c.395C>G