ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825278119
Gene: GJB3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000039325
RCV000755543
RCV001099929
ClinVar Variation:
46088
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005752.1:p.Arg32Trp
CA137665
NM_001005752.2:c.94C>T