Canonical Allele Identifier: PA2825077384
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 637609
ClinVar RCV Id: RCV000789868 RCV001869228
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000157.1:p.His100Gln
CA413501833
NM_000166.6:c.300C>A
CA413501835
NM_000166.6:c.300C>G