ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658663634
Gene: GJB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
477595
ClinVar RCV Id:
RCV000552022
RCV000789811
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001091111.1:p.Gly12Ser
CA413499462
NM_001097642.3:c.34G>A