Canonical Allele Identifier: PA098412
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 10432
ClinVar RCV Id: RCV000011177 RCV001090308 RCV001053029
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000157.1:p.Pro172Ser
CA255232
NM_000166.6:c.514C>T