ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658663734
Gene: GJB1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001091111.1:p.Pro172Leu
CA413502914
NM_001097642.3:c.515C>T