Allele Registry

Canonical Allele Identifier: PA273606

Gene: GJB2 HGNC NCBI

ClinVar RCV:

RCV000156043

RCV001850145

ClinVar Variation:

179256

HGVS (amino-acid)	Matching Registered Transcripts
NP_003995.2:p.Val37Phe	CA273605 NM_004004.6:c.109G>T