ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA096894
Gene: GJA1
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000156.1:p.His194Pro
NM_000165.5:c.581A>C