Canonical Allele Identifier: PA172222
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 158607
ClinVar RCV Id: RCV000169347 RCV000146015 RCV000215444 RCV000678877 RCV000798119 RCV001374647
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Amino-acid Alleles

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