ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658680855
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_000539.2:p.Ala837Gly
CA039285
NM_000548.5:c.2510C>G