Canonical Allele Identifier: PA113353
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 44733
ClinVar RCV Id: RCV000037832 RCV000523752 RCV000675160 RCV002482993 RCV002228124
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Met93Ile
CA134957
NM_004004.6:c.279G>A
CA387461485
NM_004004.6:c.279G>T
CA387461486
NM_004004.6:c.279G>C