ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA255244
Gene: GJB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
10436
ClinVar RCV Id:
RCV000011181
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001091111.1:p.Ile30Asn
CA255242
NM_001097642.3:c.89T>A