ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828375728
Gene: GJB6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
45504
ClinVar RCV Id:
RCV000038709
RCV000543942
RCV001088010
RCV001110052
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357020.1:p.Ser199Thr
CA136463
NM_001370091.1:c.595T>A