ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741920355
Gene: GJA8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2711254
ClinVar RCV Id:
RCV003510770
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005258.2:p.Ile82Met
CA342223677
NM_005267.5:c.246C>G