ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645431087
Gene: GJB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
418234
ClinVar RCV Id:
RCV000480735
RCV000697574
RCV001027491
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001091111.1:p.Gly5Val
CA16621491
NM_001097642.3:c.14G>T