ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA097960
Gene: GJB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
246094
ClinVar RCV Id:
RCV000235732
RCV000789177
RCV001203741
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000157.1:p.Ile28Thr
CA10584633
NM_000166.6:c.83T>C