ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA097322
Gene: GJB1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000157.1:p.Arg15Trp
NM_000166.6:c.43C>T