Canonical Allele Identifier: PA2825076686
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 637613
ClinVar RCV Id: RCV000789873

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000157.1:p.His16Gln
CA413499547
NM_000166.6:c.48T>G
CA413499550
NM_000166.6:c.48T>A