ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825439188
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000480140
RCV000555170
ClinVar Variation:
424444
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Val1579Met
CA16620103
NM_001077183.3:c.4735G>A