Canonical Allele Identifier: PA2825078178
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 637152
ClinVar RCV Id: RCV000789201
ClinVar Variation Id: 637621
ClinVar RCV Id: RCV000789883 RCV003447286
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000157.1:p.Ile214Asn
CA413503417
NM_000166.6:c.641T>A
CA915951220
NM_000166.6:c.641_642delinsAT