Canonical Allele Identifier: PA2825077173
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 857449
ClinVar RCV Id: RCV001063118
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000157.1:p.Ile71Asn
CA413501499
NM_000166.6:c.212T>A