Canonical Allele Identifier: PA645509987
Gene: GJB2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Met195Ile
CA6904231
NM_004004.6:c.585G>C
CA6904232
NM_004004.6:c.585G>T
CA387460847
NM_004004.6:c.585G>A