ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580528087
Gene: GJB4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2499208
ClinVar RCV Id:
RCV003221509
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_694944.1:p.Val52Ile
CA339300015
NM_153212.3:c.154G>A