Canonical Allele Identifier: PA2573083492
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1331603
ClinVar RCV Id: RCV001806947
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Asp46His
CA387461847
NM_004004.6:c.136G>C