ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499229133
Gene: GJA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1028586
ClinVar RCV Id:
RCV001329666
RCV001378531
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000156.1:p.Glu48Lys
CA365558001
NM_000165.5:c.142G>A