Canonical Allele Identifier: PA172216
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 158606
ClinVar RCV Id: RCV000146009
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Cys53Tyr
CA172215
NM_004004.6:c.158G>A