ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA096797
Gene: GJA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
16997
ClinVar RCV Id:
RCV000018520
RCV000430201
RCV002513102
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000156.1:p.Arg76Ser
CA127020
NM_000165.5:c.226C>A