Canonical Allele Identifier: PA2580282807
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2429565
ClinVar RCV Id: RCV003127019
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Val43Ala
CA6904313
NM_004004.6:c.128T>C