Canonical Allele Identifier: PA113365
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 17022
ClinVar RCV Id: RCV000018549
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Ser17Phe
CA127029
NM_004004.6:c.50C>T