Canonical Allele Identifier: PA3080627476
Gene: GJB2 HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Val95Leu
CA387461476
NM_004004.6:c.283G>C
CA387461477
NM_004004.6:c.283G>T