ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA253871
Gene: GJB3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000006861
ClinVar Variation:
6488
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_076872.1:p.Ile141Val
CA253870
NM_024009.3:c.421A>G