ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827002926
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000562822
RCV001049308
RCV004001145
ClinVar Variation:
486602
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Thr890Ile
CA394279934
NM_001318827.2:c.2669C>T