Canonical Allele Identifier: PA658664444
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 449488
ClinVar RCV Id: RCV000523253 RCV000735348 RCV001171543 RCV001829485 RCV003323584
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Met163Thr
CA387461043
NM_004004.6:c.488T>C