Canonical Allele Identifier: PA1139716529
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 842349
ClinVar RCV Id: RCV001044753

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Pro173Ser
CA387460986
NM_004004.6:c.517C>T