Canonical Allele Identifier: PA113178
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 17030
ClinVar RCV Id: RCV000018558
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Asn54Lys
CA127032
NM_004004.6:c.162C>A
CA387461746
NM_004004.6:c.162C>G