ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580528091
Gene: GJB4
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV002997594
ClinVar Variation:
2368754
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_694944.1:p.Gly144Val
CA754585
NM_153212.3:c.431G>T