ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916023964
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
65104
ClinVar RCV Id:
RCV000055380
RCV000055315
RCV000189909
RCV000644061
RCV000562671
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Pro889Ser
CA017740
NM_001318832.2:c.2665C>T