ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825278201
Gene: GJB3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000006865
ClinVar Variation:
6492
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005752.1:p.Asn166Ser
CA118311
NM_001005752.2:c.497A>G