ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580425284
Gene: GJD2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065711.1:p.Val171Ile
CA7466571
NM_020660.3:c.511G>A