Canonical Allele Identifier: PA2825077159
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 637606
ClinVar RCV Id: RCV000789865 RCV003447282
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000157.1:p.Pro70Phe
CA915951185
NM_000166.6:c.208_209delinsTT