ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828375711
Gene: GJB6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1447794
ClinVar RCV Id:
RCV001996923
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357020.1:p.Val153Ala
CA6904435
NM_001370091.1:c.458T>C