Canonical Allele Identifier: PA2573233332
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1407567
ClinVar RCV Id: RCV001918515

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Met151Ile
CA6904264
NM_004004.6:c.453G>A
CA387461115
NM_004004.6:c.453G>T
CA387461116
NM_004004.6:c.453G>C