Canonical Allele Identifier: PA134982
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 21388
ClinVar RCV Id: RCV000020573 RCV000037860 RCV001375209 RCV001787816 RCV001092709 RCV001257048
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Met163Val
CA134981
NM_004004.6:c.487A>G