Canonical Allele Identifier: PA113334
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 549949
ClinVar RCV Id: RCV000664535
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Leu79Pro
CA387461566
NM_004004.6:c.236T>C