ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA262797
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000042864
RCV000707631
RCV001013512
RCV003151740
ClinVar Variation:
49603
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Arg628Gly
CA016143
NM_000548.5:c.1882C>G