ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658680653
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
467887
ClinVar RCV Id:
RCV000542715
RCV002395406
RCV003314613
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Asp549Gly
CA394267934
NM_000548.5:c.1646A>G