Allele Registry

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This migration is underway but taking longer than originally estimated.

Canonical Allele Identifier: PA501225

Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 429242

ClinVar RCV Id: RCV000494462 RCV001089949 RCV003431046 RCV002395193

ClinVar Variation Id: 505021

ClinVar RCV Id: RCV000615033 RCV003139903 RCV003983142 RCV002395543

ClinVar Variation Id: 802070

ClinVar RCV Id: RCV000987442 RCV002382222

ClinVar Variation Id: 988333

ClinVar RCV Id: RCV001269622

ClinVar Variation Id: 1758319

ClinVar RCV Id: RCV002380115

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_003915.2:p.Ala256_Ala260dup	CA645369340 NM_003924.4:c.765_779dup CA1139658464 NM_003924.4:c.779_780insGGCGGCGGCGGCAGC CA2586973794 NM_003924.4:c.767_781dup