Canonical Allele Identifier: PA2580282850
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1968127
ClinVar RCV Id: RCV002727273
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Met93Leu
CA387461490
NM_004004.6:c.277A>T
CA387461492
NM_004004.6:c.277A>C