ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645432097
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
406129
ClinVar RCV Id:
RCV000460911
RCV002256251
RCV004000726
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Arg628Cys
CA034358
NM_000548.5:c.1882C>T