Canonical Allele Identifier: PA645509987
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 438621
ClinVar RCV Id: RCV000505530 RCV001857234
ClinVar Variation Id: 1334161
ClinVar RCV Id: RCV001810542 RCV001869610
ClinVar Variation Id: 1479826
ClinVar RCV Id: RCV001991045
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Met195Ile
CA6904231
NM_004004.6:c.585G>C
CA6904232
NM_004004.6:c.585G>T
CA387460847
NM_004004.6:c.585G>A