ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827006822
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
41726
ClinVar RCV Id:
RCV000034643
RCV000054863
RCV000122204
RCV000163424
RCV000201296
RCV000227708
RCV004528161
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Gly391Ser
CA014394
NM_001318829.2:c.1171G>A