Allele Registry

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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