Canonical Allele Identifier: PA645509986
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 438619
ClinVar RCV Id: RCV000505509 RCV003574781
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Asn176Ser
CA387460966
NM_004004.6:c.527A>G