ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580560010
Gene: GJB7
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_940970.1:p.Lys49Arg
CA3915049
NM_198568.3:c.146A>G