Canonical Allele Identifier: PA658831315
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 552416
ClinVar RCV Id: RCV000667670
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Cys53Arg
CA387461766
NM_004004.6:c.157T>C