Canonical Allele Identifier: PA134990
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 44760
ClinVar RCV Id: RCV000037865 RCV000678891 RCV000674539 RCV001002772 RCV001555873 RCV002477097
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Phe191Leu
CA134989
NM_004004.6:c.571T>C
CA387460872
NM_004004.6:c.573C>G
CA387460873
NM_004004.6:c.573C>A