ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573075814
Gene: TBCEL-TECTA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
236058
ClinVar RCV Id:
RCV000225064
RCV000264805
RCV000479439
RCV000826186
RCV000622759
RCV002287396
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365690.1:p.Thr2180Met
CA6327783
NM_001378761.1:c.6539C>T