Canonical Allele Identifier: PA2825077193
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1383979
ClinVar RCV Id: RCV001895649
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000157.1:p.Val74Leu
CA10445281
NM_000166.6:c.220G>C
CA413501549
NM_000166.6:c.220G>T