Canonical Allele Identifier: PA2741907169
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2739943
ClinVar RCV Id: RCV003573586
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Ile30Thr
CA387462017
NM_004004.6:c.89T>C