Canonical Allele Identifier: PA097496
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 155727
ClinVar RCV Id: RCV000143796 RCV001174164 RCV001857486 RCV003327372
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000157.1:p.Arg264Cys
CA270649
NM_000166.6:c.790C>T