ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827007197
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
405989
ClinVar RCV Id:
RCV000473481
RCV000561401
RCV003332174
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Lys525Arg
CA16614928
NM_001318829.2:c.1574A>G