Canonical Allele Identifier: PA255253
Gene: GJB1 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Val13Leu
CA255251
NM_001097642.3:c.37G>T
CA413499475
NM_001097642.3:c.37G>C