ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA097373
Gene: GJB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
637587
ClinVar RCV Id:
RCV000789838
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000157.1:p.Arg183Ser
CA413503107
NM_000166.6:c.547C>A