Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
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: PA202341

Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 196371

ClinVar RCV Id: RCV000177186 RCV000231391 RCV000574621 RCV001579675

ClinVar Variation Id: 239595

ClinVar RCV Id: RCV000226578 RCV000563548 RCV001705261 RCV002494645 RCV002229354

ClinVar Variation Id: 467742

ClinVar RCV Id: RCV000840185 RCV001083365 RCV002257810 RCV003942808

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_003915.2:p.Ala256_Ala260del	CA202339 NM_003924.4:c.741_755del CA2901422 NM_003924.4:c.765_779del CA2901434 NM_003924.4:c.753_767del