Canonical Allele Identifier: PA2825078383
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1714405
ClinVar RCV Id: RCV002297334
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000157.1:p.Arg279Leu
CA413504444
NM_000166.6:c.836G>T