ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825278143
Gene: GJB3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
6490
ClinVar RCV Id:
RCV000006863
RCV000345579
RCV002243625
RCV002468963
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005752.1:p.Asp66del
CA212856
NM_001005752.2:c.196_198del