Allele Registry

Canonical Allele Identifier: PA2826215454

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000238037

RCV000812951

ClinVar Variation:

252092

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182729.1:p.Asp454Asn	CA10585663 NM_001195800.2:c.1360G>A