ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA096747
Gene: GJA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000413018
RCV000698171
RCV003223401
ClinVar Variation:
372744
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000156.1:p.Arg202His
CA3981712
NM_000165.5:c.605G>A