Allele Registry

Canonical Allele Identifier: PA097533

Gene: GJB1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
NP_000157.1:p.Asn14Lys	CA413499510 NM_000166.6:c.42C>A CA413499512 NM_000166.6:c.42C>G