Canonical Allele Identifier: PA2825076556
Gene: GJB1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000157.1:p.Asn2Lys
CA413499271
NM_000166.6:c.6C>A
CA413499274
NM_000166.6:c.6C>G