ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741811732
Gene: GJA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3010285
ClinVar RCV Id:
RCV003867460
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000156.1:p.Ser180Ile
CA365559238
NM_000165.5:c.539G>T