ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829973789
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000542715
RCV002395406
RCV003314613
ClinVar Variation:
467887
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Asp549Gly
CA394267934
NM_021055.3:c.1646A>G