ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580549342
Gene: GJA5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2196117
ClinVar RCV Id:
RCV002633422
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_859054.1:p.Ala216Thr
CA30068807
NM_181703.4:c.646G>A