ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825557006
Gene: GJB6
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001103690.1:p.Asp50His
CA387468745
NM_001110220.3:c.148G>C