ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580105060
Gene: GJA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2114301
ClinVar RCV Id:
RCV003042722
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000156.1:p.Ala51Gly
CA365558026
NM_000165.5:c.152C>G