Canonical Allele Identifier: PA267509
Gene: GJB1 HGNC NCBI
ClinVar Allele:
102962
ClinVar RCV:
RCV000083303
ClinVar Variation:
97063
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Pro58Ser
CA267507
NM_001097642.3:c.172C>T