ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825278131
Gene: GJB3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
2898206
ClinVar RCV:
RCV003562236
ClinVar Variation:
2733872
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005752.1:p.Trp44Ser
CA754759
NM_001005752.2:c.131G>C