Canonical Allele Identifier: PA274471
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 189183
ClinVar RCV Id: RCV000169613 RCV000609655 RCV000991850 RCV003224180 RCV004535149
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Ser199Phe
CA274470
NM_004004.6:c.596C>T