ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA096914
Gene: GJA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000156.1:p.Ile130Thr
CA365558896
NM_000165.5:c.389T>C