Canonical Allele Identifier: PA273832
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1384271
ClinVar RCV Id: RCV001895869

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Pro70Ala
CA273831
NM_004004.6:c.208C>G