Canonical Allele Identifier: PA2825077719
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 477597
ClinVar RCV Id: RCV000560305 RCV003313965
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000157.1:p.Tyr154Cys
CA413502587
NM_000166.6:c.461A>G