ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916023103
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000534200
RCV001574195
RCV002258956
ClinVar Variation:
468020
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Pro932Ser
CA394289363
NM_001318831.2:c.2794C>T