Canonical Allele Identifier: PA113261
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 228264
ClinVar RCV Id: RCV000213896 RCV000409464 RCV000411886 RCV001853423
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Gly130Ala
CA10576937
NM_004004.6:c.389G>C