Canonical Allele Identifier: PA098908
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 10439
ClinVar RCV Id: RCV000011184
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000157.1:p.Val13Leu
CA255251
NM_000166.6:c.37G>T
CA413499475
NM_000166.6:c.37G>C