Canonical Allele Identifier: PA198807
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 44729
ClinVar RCV Id: RCV000037821 RCV000211762 RCV000724654 RCV000762907 RCV003990963
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Met1Val