ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA098107
Gene: GJB1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000516283
RCV000552811
RCV000789233
ClinVar Variation:
447428
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000157.1:p.Leu89Pro
CA413501709
NM_000166.6:c.266T>C