Canonical Allele Identifier: PA2825077270
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 637242
ClinVar RCV Id: RCV000789313 RCV001318400
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000157.1:p.Leu83Arg
CA413501652
NM_000166.6:c.248T>G