Canonical Allele Identifier: PA2499237714
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1016396
ClinVar RCV Id: RCV001315393 RCV001835558
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Ser253Asn
CA330997854
NM_001097642.3:c.758G>A