ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827007321
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
58339
ClinVar RCV:
RCV000042433
RCV001388105
ClinVar Variation:
49177
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Arg562Gly
CA015905
NM_001318829.2:c.1684C>G