Canonical Allele Identifier: PA172227
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 17006
ClinVar RCV Id: RCV000018530 RCV000146018 RCV000211776 RCV000678881 RCV001257563 RCV000520132 RCV002496401
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Glu120del
CA172226
NM_004004.6:c.358_360del