Canonical Allele Identifier: PA2825078334
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2706812
ClinVar RCV Id: RCV003582359
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000157.1:p.Ala271Ser
CA413504242
NM_000166.6:c.811G>T