Canonical Allele Identifier: PA172209
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 158604
ClinVar RCV Id: RCV000146004 RCV000518385 RCV000787988 RCV001857508
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Leu36Pro
CA172208
NM_004004.6:c.107T>C