ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573075723
Gene: TBCEL-TECTA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
504679
ClinVar RCV Id:
RCV000610403
RCV003565433
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365690.1:p.Glu1354Lys
CA6327154
NM_001378761.1:c.4060G>A