ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580549329
Gene: GJA5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2133905
ClinVar RCV Id:
RCV003056412
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_859054.1:p.Ala96Asp
CA342397223
NM_181703.4:c.287C>A