ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828375790
Gene: GJB6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
225377
ClinVar RCV Id:
RCV000490500
RCV002478761
RCV003330585
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357021.1:p.Glu101Lys
CA6904473
NM_001370092.1:c.301G>A