Canonical Allele Identifier: PA645385240
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 371781
ClinVar RCV Id: RCV000409687 RCV000410366 RCV000991847 RCV001171533 RCV004530500
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Met1Thr