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: PA2825623723

Gene: ALPL HGNC NCBI

Linked Data

ClinVar Variation Id: 2129889

ClinVar RCV Id: RCV003044267

ClinVar Variation Id: 2827148

ClinVar RCV Id: RCV003691668

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001120973.2:p.Asn268Lys	CA338880385 NM_001127501.4:c.804C>G CA338880386 NM_001127501.4:c.804C>A