Canonical Allele Identifier: PA2825077172
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 637243
ClinVar RCV Id: RCV000789314
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000157.1:p.Ile71Ser
CA413501504
NM_000166.6:c.212T>G