ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA113195
Gene: GJB2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
32065
ClinVar RCV:
RCV000018553
ClinVar Variation:
17026
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003995.2:p.Asp179Asn
CA257681
NM_004004.6:c.535G>A