Canonical Allele Identifier: PA2741907240
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2627130
ClinVar RCV Id: RCV003388324
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Asp159Tyr
CA6904260
NM_004004.6:c.475G>T