ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA341600
Gene: GJB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
21081
ClinVar RCV Id:
RCV000020171
RCV000217618
RCV001064548
RCV000789665
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001091111.1:p.Val63Ile
CA341598
NM_001097642.3:c.187G>A