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: PA645379670

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252058

ClinVar RCV Id: RCV000237347 RCV001699252

ClinVar Variation Id: 252059

ClinVar RCV Id: RCV000237875 RCV002411094

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Leu611Phe	CA10585637 NM_000527.5:c.1833G>C CA10585638 NM_000527.5:c.1833G>T