Canonical Allele Identifier: PA273920
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 188756
ClinVar RCV Id: RCV000169070 RCV001207124 RCV001257041 RCV004528922
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Ile82Met
CA273919
NM_004004.6:c.246C>G