ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828418685
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000553299
RCV002431634
RCV004527646
ClinVar Variation:
467948
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357334.1:p.Ala837Gly
CA039285
NM_001370405.1:c.2510C>G