ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580242972
Gene: TBCEL-TECTA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1710866
ClinVar RCV Id:
RCV002292153
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365690.1:p.Glu2064Gln
CA6327682
NM_001378761.1:c.6190G>C