Allele Registry

Canonical Allele Identifier: PA172222

Gene: GJB2 HGNC NCBI

ClinVar RCV:

RCV000146015

RCV000169347

RCV000215444

RCV000678877

RCV000798119

RCV001374647

ClinVar Variation:

158607

HGVS (amino-acid)	Matching Registered Transcripts
NP_003995.2:p.His100Tyr	CA172221 NM_004004.6:c.298C>T