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: PA645377353

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251483

ClinVar RCV Id: RCV000237583

ClinVar Variation Id: 251486

ClinVar RCV Id: RCV000237595

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Cys284Ser	CA10585157 NM_000527.5:c.850T>A CA10585160 NM_000527.5:c.851G>C