Canonical Allele Identifier: PA2825557035
Gene: GJB6 HGNC NCBI

Linked Data

ClinVar Variation Id: 188490
ClinVar RCV Id: RCV000168675 RCV000840681 RCV001078575 RCV001110824
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001103690.1:p.Asn113Lys
CA198811
NM_001110220.3:c.339T>A
CA387468330
NM_001110220.3:c.339T>G