Canonical Allele Identifier: PA098952
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 637559
ClinVar RCV Id: RCV000789797 RCV001350409
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000157.1:p.Val181Ala
CA413503078
NM_000166.6:c.542T>C