ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825557063
Gene: GJB6
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001103690.1:p.Ala198Val
CA6904411
NM_001110220.3:c.593C>T