ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645430609
Gene: GJA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
435324
ClinVar RCV Id:
RCV000500645
RCV001579352
RCV003517211
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000156.1:p.Arg148Gln
CA146810025
NM_000165.5:c.443G>A