ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499299309
Gene: GJB4
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV001639270
ClinVar Variation:
1236755
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_694944.1:p.Arg151Ser
CA754590
NM_153212.3:c.451C>A