ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828417265
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_001357334.1:p.Gly440Ser
CA014394
NM_001370405.1:c.1318G>A