ClinGen Allele Registry
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Canonical Allele Identifier:
PA096775
Gene: GJA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
16990
ClinVar RCV Id:
RCV000018511
RCV000018512
RCV000444307
RCV001089368
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000156.1:p.Arg362Gln
CA215135
NM_000165.5:c.1085G>A