ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916023929
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
467948
ClinVar RCV Id:
RCV000553299
RCV002431634
RCV004527646
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Ala848Gly
CA039285
NM_001318832.2:c.2543C>G