ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA337774
Gene: GJB1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001091111.1:p.Ile28Asn
CA337772
NM_001097642.3:c.83T>A