Canonical Allele Identifier: PA2825076803
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 374173
ClinVar RCV Id: RCV000415308 RCV000797143 RCV000991852 RCV000789238
ClinVar Variation Id: 917093
ClinVar RCV Id: RCV001173558
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000157.1:p.Val37Leu
CA16043599
NM_000166.6:c.109G>T
CA413500957
NM_000166.6:c.109G>C