Canonical Allele Identifier: PA658812600
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 501015
ClinVar RCV Id: RCV000591373
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Pro173Leu
CA387460983
NM_004004.6:c.518C>T