Canonical Allele Identifier: PA658699490
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 496222
ClinVar RCV Id: RCV000586232
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Val178Leu
CA387460954
NM_004004.6:c.532G>T
CA387460955
NM_004004.6:c.532G>C