Canonical Allele Identifier: PA097945
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 521767
ClinVar RCV Id: RCV000622462 RCV000654834 RCV000789057 RCV001700255
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000157.1:p.Ile213Val
CA10445323
NM_000166.6:c.637A>G