ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573311520
Gene: GJA5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1384515
ClinVar RCV Id:
RCV001897641
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_859054.1:p.Leu220Phe
CA342395193
NM_181703.4:c.658C>T