Canonical Allele Identifier: PA645385764
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 429984
ClinVar RCV Id: RCV000493772 RCV001004776
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Lys188Arg
CA387460893
NM_004004.6:c.563A>G