ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573061620
Gene: GJA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000156.1:p.Val240Asn
CA2573052572
NM_000165.5:c.718_719delinsAA