Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
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.

Canonical Allele Identifier: PA645511079

Gene: PHEX HGNC NCBI

Linked Data

ClinVar Variation Id: 438531

ClinVar RCV Id: RCV000505436 RCV001377690

ClinVar Variation Id: 1929566

ClinVar RCV Id: RCV002618701

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000435.3:p.Lys468Asn	CA10368231 NM_000444.6:c.1404G>C CA412574803 NM_000444.6:c.1404G>T