Canonical Allele Identifier: PA645431187
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 237122
ClinVar RCV Id: RCV000231475 RCV000484101 RCV000789229 RCV004020742
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Pro70Ala
CA10583953
NM_001097642.3:c.208C>G