Canonical Allele Identifier: PA2825077625
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2660859
ClinVar RCV Id: RCV003439588 RCV004526258
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000157.1:p.Ala147Ser
CA10445300
NM_000166.6:c.439G>T