ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916078291
Gene: GJA5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_859054.1:p.Ile75Phe
CA151265
NM_181703.4:c.223A>T