ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573212941
Gene: TBCEL-TECTA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1428840
ClinVar RCV Id:
RCV001936503
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365690.1:p.Asp516Asn
CA383022099
NM_001378761.1:c.1546G>A