Canonical Allele Identifier: PA658664301
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 452192
ClinVar RCV Id: RCV000522480
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Leu25Phe
CA387462069
NM_004004.6:c.73C>T