Canonical Allele Identifier: PA915971498
Gene: GJB1 HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Trp24Cys
CA413500761
NM_001097642.3:c.72G>C
CA413500765
NM_001097642.3:c.72G>T