ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645385959
Gene: GJA8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
292466
ClinVar RCV Id:
RCV000276226
RCV000333662
RCV003409433
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005258.2:p.Val129Ile
CA1065932
NM_005267.5:c.385G>A