ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573075778
Gene: TBCEL-TECTA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
180103
ClinVar RCV Id:
RCV000156907
RCV000326930
RCV000381584
RCV000756761
RCV002267729
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365690.1:p.Val1813Ala
CA185821
NM_001378761.1:c.5438T>C