ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA098652
Gene: GJB1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000789253
ClinVar Variation:
637190
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000157.1:p.Thr55Arg
CA413501219
NM_000166.6:c.164C>G