Canonical Allele Identifier: PA2741907249
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2691671
ClinVar RCV Id: RCV003490870
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Thr186Lys
CA387460907
NM_004004.6:c.557C>A