ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA096785
Gene: GJA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
16991
ClinVar RCV Id:
RCV000018513
RCV000018514
RCV000860936
RCV001155824
RCV001153228
RCV001557593
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000156.1:p.Arg376Gln
CA215136
NM_000165.5:c.1127G>A