Canonical Allele Identifier: PA2825077329
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 447429
ClinVar RCV Id: RCV000517198 RCV000789904
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000157.1:p.Val91Leu
CA413501722
NM_000166.6:c.271G>C
CA413501723
NM_000166.6:c.271G>T