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 allow us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.

Canonical Allele Identifier: PA916001502

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251189

ClinVar RCV Id: RCV000237938

ClinVar Variation Id: 1321222

ClinVar RCV Id: RCV002227549

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182728.1:p.Phe85Leu	CA10584888 NM_001195799.2:c.253T>C CA404076320 NM_001195799.2:c.255C>A CA404076321 NM_001195799.2:c.255C>G