Canonical Allele Identifier: PA1139716566
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 978418
ClinVar RCV Id: RCV001257050
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Val190Asp
CA387460879
NM_004004.6:c.569T>A