Canonical Allele Identifier: PA2825078339
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 543924
ClinVar RCV Id: RCV000654847 RCV001271692 RCV002424550 RCV003482293
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000157.1:p.Ser277Asn
CA10445350
NM_000166.6:c.830G>A