Canonical Allele Identifier: PA645431115
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 406224
ClinVar RCV Id: RCV000467465 RCV000789955 RCV003401459
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Met34Thr
CA16616534
NM_001097642.3:c.101T>C