Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
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This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
This migration is underway but taking longer than originally estimated.

Canonical Allele Identifier: PA645427198

Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 239591

ClinVar RCV Id: RCV000228934 RCV001589186 RCV002256147

ClinVar Variation Id: 239593

ClinVar RCV Id: RCV000226754 RCV000565614 RCV000587639 RCV000479524

ClinVar Variation Id: 413918

ClinVar RCV Id: RCV000461354 RCV003915289

ClinVar Variation Id: 652159

ClinVar RCV Id: RCV003103842 RCV003892726

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_003915.2:p.Ala254_Ala260del	CA2901424 NM_003924.4:c.756_776del CA2901438 NM_003924.4:c.741_761del CA2901445 NM_003924.4:c.729_749del CA2670427139 NM_003924.4:c.759_779del