ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658663329
Gene: GJA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
470213
ClinVar RCV Id:
RCV000560533
RCV000998674
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000156.1:p.Asp47Val
CA365557998
NM_000165.5:c.140A>T