ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829595764
Gene: GJA5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2057986
ClinVar RCV Id:
RCV002928352
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005257.2:p.Leu217Pro
CA342395226
NM_005266.7:c.650T>C